Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv5899242

Organism: Homo sapiens

Study:nstd209 (Almarri et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:50

Publication(s):Almarri et al. 2020

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 115 SVs from 31 studies. See in: genome view

Submitted genomic67,422,181-67,422,230

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5899242	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	67,422,181	67,422,230
nsv5899242	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	67,472,605	67,472,654

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17414804	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17414804	Submitted genomic		NC_000003.12:g.674 22181_67422230del	GRCh38 (hg38)		NC_000003.12	Chr3	67,422,181	67,422,230
nssv17414804	Remapped	Perfect	NC_000003.11:g.674 72605_67472654del	GRCh37.p13	First Pass	NC_000003.11	Chr3	67,472,605	67,472,654

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

You are here: NCBI