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dbVar

Database of genomic structural variation

nsv6613979

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:47,200

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: 704 SVs from 75 studies. See in: genome view

Submitted genomic100,928,901-100,976,100

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6613979	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	100,928,901	100,976,100
nsv6613979	Remapped	Pass	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	100,526,521	100,619,381

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18220886	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18220886	Submitted genomic		NC_000007.14:g.100 928901_100976100du p	GRCh38 (hg38)		NC_000007.14	Chr7	100,928,901	100,976,100
nssv18220886	Remapped	Pass	NC_000007.13:g.100 526521_100619381du p	GRCh37.p13	First Pass	NC_000007.13	Chr7	100,526,521	100,619,381

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)
nssv18220886	0.979	38483	39302

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