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dbVar

Database of genomic structural variation

nsv5602623

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:58

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: 135 SVs from 40 studies. See in: genome view

Submitted genomic109,210,297-109,210,354

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5602623	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	109,210,297	109,210,354
nsv5602623	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	109,648,102	109,648,159

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17077397	deletion	HG00512	Sequencing	Sequence alignment	6,637

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17077397	Submitted genomic		NC_000012.12:g.109 210297_109210354de lA	GRCh38 (hg38)		NC_000012.12	Chr12	109,210,297	109,210,354
nssv17077397	Remapped	Perfect	NC_000012.11:g.109 648102_109648159de lA	GRCh37.p13	First Pass	NC_000012.11	Chr12	109,648,102	109,648,159

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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