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dbVar

Database of genomic structural variation

nsv6521584

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:280

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

Submitted genomic81,899,721-81,900,000

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6521584	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	81,899,721	81,900,000
nsv6521584	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	79,857,597	79,857,876

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18039216	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18039216	Submitted genomic		NC_000017.11:g.818 99721_81900000del	GRCh38 (hg38)		NC_000017.11	Chr17	81,899,721	81,900,000
nssv18039216	Remapped	Perfect	NC_000017.10:g.798 57597_79857876del	GRCh37.p13	First Pass	NC_000017.10	Chr17	79,857,597	79,857,876

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)
nssv18039216	<0.001	10	38932

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