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dbVar

Database of genomic structural variation

nsv5598598

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:303

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: 1007 SVs from 64 studies. See in: genome view

Submitted genomic42,118,832-42,119,134

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5598598	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000009.12	Chr9	42,118,832	42,119,134
nsv5598598	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	43,695,255	43,695,557

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17162059	deletion	HG03683	Sequencing	Sequence alignment	2,232

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17162059	Submitted genomic		NC_000009.12:g.421 18832_42119134delA	GRCh38 (hg38)		NC_000009.12	Chr9	42,118,832	42,119,134
nssv17162059	Remapped	Perfect	NC_000009.11:g.436 95255_43695557delA	GRCh37.p13	First Pass	NC_000009.11	Chr9	43,695,255	43,695,557

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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