Comments (4)
The version of the AnnotSV website is 3.4 => Human annotation have been updated.
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AnnotSV website:
SV coordinates : "X:31452231-31452564 INS"
Genome build: GRCh38
=> DMD gene in intron5
Everything looks good in the last version of AnnotSV (V3.4).
from annotsv.
AnnotSV 3.4 annotates your INS with NM_004014.3.
from annotsv.
Thank you for letting me know. Can you also let me know the database that was used for the human annotation to intron or exon region
Thank you
Priya
from annotsv.
cf README
=> RefSeq or ENSEMBL (user defined)
from annotsv.
Related Issues (20)
- Unusual large memory needed for very large sized coupled BNDs HOT 4
- Why is there never a class 2 in ACMG_class? HOT 1
- CytoBand appear... HOT 3
- MAF in gnomAD HOT 1
- Is there a way to include ensembl_ids and/or hgnc_ids along with gene_name? HOT 3
- New long-read population reference HOT 1
- Question about reverse strand genes HOT 7
- Rogue double quote in PRDM10 HOT 6
- custom bed annotation. overlap within n bases HOT 2
- Multiple column and tab errors with CNVkit vcf output HOT 4
- left gene HOT 15
- Mapping of structural variant to intron or coding regions HOT 2
- exomiser error: connect failed connection refused HOT 2
- vcf errors HOT 1
- AnnotSV passing wrong arguments to variant convert HOT 5
- Keep AnnotSV_ID consistent with SV_chrom HOT 10
- frameshift between full and split mode HOT 5
- UCSC link failed to open the correct position HOT 5
- AnnotSV" line 283 HOT 3
- VCF for false positive deletion and for compund etherozygosity
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from annotsv.