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dbVar

Database of genomic structural variation

nsv5601231

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:261

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: 398 SVs from 44 studies. See in: genome view

Submitted genomic1,397,464-1,397,724

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5601231	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	1,397,464	1,397,724
nsv5601231	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	1,447,465	1,447,725

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17096330	deletion	SAMN00006579	Sequencing	Sequence alignment	23,265

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17096330	Submitted genomic		NC_000016.10:g.139 7464_1397724delG	GRCh38 (hg38)		NC_000016.10	Chr16	1,397,464	1,397,724
nssv17096330	Remapped	Perfect	NC_000016.9:g.1447 465_1447725delG	GRCh37.p13	First Pass	NC_000016.9	Chr16	1,447,465	1,447,725

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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