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dbVar

Database of genomic structural variation

nsv5600171

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:316

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: 190 SVs from 44 studies. See in: genome view

Submitted genomic67,219,762-67,220,077

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5600171	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	67,219,762	67,220,077
nsv5600171	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	67,253,665	67,253,980

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17087635	deletion	SAMN00001694	Sequencing	Sequence alignment	8,610

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17087635	Submitted genomic		NC_000016.10:g.672 19762_67220077delG	GRCh38 (hg38)		NC_000016.10	Chr16	67,219,762	67,220,077
nssv17087635	Remapped	Perfect	NC_000016.9:g.6725 3665_67253980delG	GRCh37.p13	First Pass	NC_000016.9	Chr16	67,253,665	67,253,980

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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