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dbVar

Database of genomic structural variation

nsv5585689

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:73

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

Submitted genomic132,134,758-132,134,830

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5585689	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	132,134,758	132,134,830
nsv5585689	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	132,619,303	132,619,375

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17078664	deletion	HG03065	Sequencing	Sequence alignment	3,836

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17078664	Submitted genomic		NC_000012.12:g.132 134758_132134830de lC	GRCh38 (hg38)		NC_000012.12	Chr12	132,134,758	132,134,830
nssv17078664	Remapped	Perfect	NC_000012.11:g.132 619303_132619375de lC	GRCh37.p13	First Pass	NC_000012.11	Chr12	132,619,303	132,619,375

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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