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dbVar

Database of genomic structural variation

nsv5596446

Organism: Homo sapiens

Study:nstd207 (Ebert et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:150

Publication(s):Ebert et al. 2021

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: 133 SVs from 30 studies. See in: genome view

Submitted genomic71,296,709-71,296,858

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5596446	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000010.11	Chr10	71,296,709	71,296,858
nsv5596446	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000010.10	Chr10	73,056,466	73,056,615

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17071820	deletion	HG03125	Sequencing	Sequence alignment	5,031

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17071820	Submitted genomic		NC_000010.11:g.712 96709_71296858delC	GRCh38 (hg38)		NC_000010.11	Chr10	71,296,709	71,296,858
nssv17071820	Remapped	Perfect	NC_000010.10:g.730 56466_73056615delC	GRCh37.p13	First Pass	NC_000010.10	Chr10	73,056,466	73,056,615

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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