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dbVar

Database of genomic structural variation

nsv5592173

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:63

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: 152 SVs from 37 studies. See in: genome view

Submitted genomic123,349,530-123,349,592

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5592173	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	123,349,530	123,349,592
nsv5592173	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	123,834,077	123,834,139

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17077902	deletion	SAMN00001694	Sequencing	Sequence alignment	8,610

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17077902	Submitted genomic		NC_000012.12:g.123 349530_123349592de lT	GRCh38 (hg38)		NC_000012.12	Chr12	123,349,530	123,349,592
nssv17077902	Remapped	Perfect	NC_000012.11:g.123 834077_123834139de lT	GRCh37.p13	First Pass	NC_000012.11	Chr12	123,834,077	123,834,139

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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