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dbVar

Database of genomic structural variation

nsv5593354

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:57

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: 152 SVs from 41 studies. See in: genome view

Submitted genomic7,205,695-7,205,751

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5593354	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	7,205,695	7,205,751
nsv5593354	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	7,109,014	7,109,070

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17094075	deletion	SAMN00801888	Sequencing	Sequence alignment	2,004

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17094075	Submitted genomic		NC_000017.11:g.720 5695_7205751delA	GRCh38 (hg38)		NC_000017.11	Chr17	7,205,695	7,205,751
nssv17094075	Remapped	Perfect	NC_000017.10:g.710 9014_7109070delA	GRCh37.p13	First Pass	NC_000017.10	Chr17	7,109,014	7,109,070

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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