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dbVar

Database of genomic structural variation

nsv5597748

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:37,363

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: 433 SVs from 63 studies. See in: genome view

Submitted genomic63,875,330-63,912,692

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5597748	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	63,875,330	63,912,692
nsv5597748	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	61,952,690	61,990,052

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17094633	deletion	HG03065	Sequencing	Sequence alignment	3,836

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17094633	Submitted genomic		NC_000017.11:g.638 75330_63912692delC	GRCh38 (hg38)		NC_000017.11	Chr17	63,875,330	63,912,692
nssv17094633	Remapped	Perfect	NC_000017.10:g.619 52690_61990052delC	GRCh37.p13	First Pass	NC_000017.10	Chr17	61,952,690	61,990,052

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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