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dbVar

Database of genomic structural variation

nsv6330555

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:4,157

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: 140 SVs from 30 studies. See in: genome view

Submitted genomic233,363,714-233,367,870

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6330555	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	233,363,714	233,367,870
nsv6330555	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	233,499,460	233,503,616

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18202374	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18202374	Submitted genomic		NC_000001.11:g.233 363714_233367870du p	GRCh38 (hg38)		NC_000001.11	Chr1	233,363,714	233,367,870
nssv18202374	Remapped	Perfect	NC_000001.10:g.233 499460_233503616du p	GRCh37.p13	First Pass	NC_000001.10	Chr1	233,499,460	233,503,616

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)
nssv18202374	0.003	105	39290

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