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dbVar

Database of genomic structural variation

nsv6445163

Organism: Homo sapiens

Study:nstd223 (Sedlazeck et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:4,813

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: 121 SVs from 26 studies. See in: genome view

Submitted genomic89,829,484-89,834,296

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6445163	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000010.11	Chr10	89,829,484	89,834,296
nsv6445163	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000010.10	Chr10	91,589,241	91,594,053

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17984984	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17984984	Submitted genomic		NC_000010.11:g.898 29484_89834296del	GRCh38 (hg38)		NC_000010.11	Chr10	89,829,484	89,834,296
nssv17984984	Remapped	Perfect	NC_000010.10:g.915 89241_91594053del	GRCh37.p13	First Pass	NC_000010.10	Chr10	91,589,241	91,594,053

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv17984984	<0.001	3	39156

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