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dbVar

Database of genomic structural variation

nsv5594937

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:61

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

Submitted genomic105,485,999-105,486,059

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5594937	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000009.12	Chr9	105,485,999	105,486,059
nsv5594937	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	108,248,280	108,248,340

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17156816	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
nssv17156816	Submitted genomic		NC_000009.12:g.105 485999_105486059de lC	GRCh38 (hg38)		NC_000009.12	Chr9	105,485,999	105,486,059
nssv17156816	Remapped	Perfect	NC_000009.11:g.108 248280_108248340de lC	GRCh37.p13	First Pass	NC_000009.11	Chr9	108,248,280	108,248,340

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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