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dbVar

Database of genomic structural variation

nsv5581073

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:132

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: 457 SVs from 53 studies. See in: genome view

Submitted genomic1,372,729-1,372,860

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5581073	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	1,372,729	1,372,860
nsv5581073	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	1,366,517	1,366,648

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17126133	deletion	SAMN00006580	Sequencing	Sequence alignment	9,409

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17126133	Submitted genomic		NC_000004.12:g.137 2729_1372860delA	GRCh38 (hg38)		NC_000004.12	Chr4	1,372,729	1,372,860
nssv17126133	Remapped	Perfect	NC_000004.11:g.136 6517_1366648delA	GRCh37.p13	First Pass	NC_000004.11	Chr4	1,366,517	1,366,648

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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