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dbVar

Database of genomic structural variation

nsv5595992

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:448

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: 104 SVs from 39 studies. See in: genome view

Submitted genomic6,551,833-6,552,280

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5595992	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000011.10	Chr11	6,551,833	6,552,280
nsv5595992	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	6,573,063	6,573,510

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17075283	deletion	SAMN00006580	Sequencing	Sequence alignment	9,409

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17075283	Submitted genomic		NC_000011.10:g.655 1833_6552280delC	GRCh38 (hg38)		NC_000011.10	Chr11	6,551,833	6,552,280
nssv17075283	Remapped	Perfect	NC_000011.9:g.6573 063_6573510delC	GRCh37.p13	First Pass	NC_000011.9	Chr11	6,573,063	6,573,510

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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