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dbVar

Database of genomic structural variation

nsv6534787

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:46,800

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: 395 SVs from 66 studies. See in: genome view

Submitted genomic49,466,701-49,513,500

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6534787	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000018.10	Chr18	49,466,701	49,513,500
nsv6534787	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	46,993,071	47,039,870

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18194614	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18194614	Submitted genomic		NC_000018.10:g.494 66701_49513500dup	GRCh38 (hg38)		NC_000018.10	Chr18	49,466,701	49,513,500
nssv18194614	Remapped	Perfect	NC_000018.9:g.4699 3071_47039870dup	GRCh37.p13	First Pass	NC_000018.9	Chr18	46,993,071	47,039,870

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)
nssv18194614	<0.001	2	37296

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