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dbVar

Database of genomic structural variation

nsv5593043

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:314

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: 120 SVs from 33 studies. See in: genome view

Submitted genomic75,300,667-75,300,980

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5593043	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000011.10	Chr11	75,300,667	75,300,980
nsv5593043	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	75,011,711	75,012,024

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17075888	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
nssv17075888	Submitted genomic		NC_000011.10:g.753 00667_75300980delT	GRCh38 (hg38)		NC_000011.10	Chr11	75,300,667	75,300,980
nssv17075888	Remapped	Perfect	NC_000011.9:g.7501 1711_75012024delT	GRCh37.p13	First Pass	NC_000011.9	Chr11	75,011,711	75,012,024

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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