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dbVar

Database of genomic structural variation

nsv6509707

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:12,500

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: 137 SVs from 24 studies. See in: genome view

Submitted genomic51,738,901-51,751,400

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6509707	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000015.10	Chr15	51,738,901	51,751,400
nsv6509707	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000015.9	Chr15	52,031,098	52,043,597

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18182310	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18182310	Submitted genomic		NC_000015.10:g.517 38901_51751400dup	GRCh38 (hg38)		NC_000015.10	Chr15	51,738,901	51,751,400
nssv18182310	Remapped	Perfect	NC_000015.9:g.5203 1098_52043597dup	GRCh37.p13	First Pass	NC_000015.9	Chr15	52,031,098	52,043,597

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)
nssv18182310	<0.001	29	39258

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