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dbVar

Database of genomic structural variation

nsv5586061

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:117

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: 105 SVs from 31 studies. See in: genome view

Submitted genomic117,075,868-117,075,984

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5586061	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	117,075,868	117,075,984
nsv5586061	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	117,513,673	117,513,789

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17077260	deletion	HG03486	Sequencing	Sequence alignment	4,355

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17077260	Submitted genomic		NC_000012.12:g.117 075868_117075984de lT	GRCh38 (hg38)		NC_000012.12	Chr12	117,075,868	117,075,984
nssv17077260	Remapped	Perfect	NC_000012.11:g.117 513673_117513789de lT	GRCh37.p13	First Pass	NC_000012.11	Chr12	117,513,673	117,513,789

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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