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dbVar

Database of genomic structural variation

nsv6530661

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:14,700

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: 313 SVs from 54 studies. See in: genome view

Submitted genomic63,893,892-63,908,591

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6530661	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	63,893,892	63,908,591
nsv6530661	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	61,971,252	61,985,951

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18037775	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18037775	Submitted genomic		NC_000017.11:g.638 93892_63908591del	GRCh38 (hg38)		NC_000017.11	Chr17	63,893,892	63,908,591
nssv18037775	Remapped	Perfect	NC_000017.10:g.619 71252_61985951del	GRCh37.p13	First Pass	NC_000017.10	Chr17	61,971,252	61,985,951

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)
nssv18037775	<0.001	13	38802

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