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dbVar

Database of genomic structural variation

nsv5945814

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:84

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: 230 SVs from 28 studies. See in: genome view

Submitted genomic49,917,451-49,917,534

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5945814	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000013.11	Chr13	49,917,451	49,917,534
nsv5945814	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000013.10	Chr13	50,491,587	50,491,670

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17375399	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17375399	Submitted genomic		NC_000013.11:g.499 17451_49917534del	GRCh38 (hg38)		NC_000013.11	Chr13	49,917,451	49,917,534
nssv17375399	Remapped	Perfect	NC_000013.10:g.504 91587_50491670del	GRCh37.p13	First Pass	NC_000013.10	Chr13	50,491,587	50,491,670

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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