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dbVar

Database of genomic structural variation

nsv5940592

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:326

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: 240 SVs from 49 studies. See in: genome view

Submitted genomic46,145,627-46,145,952

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5940592	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000013.11	Chr13	46,145,627	46,145,952
nsv5940592	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000013.10	Chr13	46,719,762	46,720,087

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17387675	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17387675	Submitted genomic		NC_000013.11:g.461 45627_46145952del	GRCh38 (hg38)		NC_000013.11	Chr13	46,145,627	46,145,952
nssv17387675	Remapped	Perfect	NC_000013.10:g.467 19762_46720087del	GRCh37.p13	First Pass	NC_000013.10	Chr13	46,719,762	46,720,087

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.

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