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dbVar

Database of genomic structural variation

nsv6426764

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:3,400

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: 181 SVs from 29 studies. See in: genome view

Submitted genomic149,457,801-149,461,200

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6426764	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	149,457,801	149,461,200
nsv6426764	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	149,154,892	149,158,291

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18154034	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18154034	Submitted genomic		NC_000007.14:g.149 457801_149461200de l	GRCh38 (hg38)		NC_000007.14	Chr7	149,457,801	149,461,200
nssv18154034	Remapped	Perfect	NC_000007.13:g.149 154892_149158291de l	GRCh37.p13	First Pass	NC_000007.13	Chr7	149,154,892	149,158,291

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)
nssv18154034	0.007	249	35440

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