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dbVar

Database of genomic structural variation

nsv6322731

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:29,564

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 30 studies. See in: genome view

Submitted genomic203,750,242-203,779,805

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6322731	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	203,750,242	203,779,805
nsv6322731	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	203,719,370	203,748,933

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18201840	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18201840	Submitted genomic		NC_000001.11:g.203 750242_203779805du p	GRCh38 (hg38)		NC_000001.11	Chr1	203,750,242	203,779,805
nssv18201840	Remapped	Perfect	NC_000001.10:g.203 719370_203748933du p	GRCh37.p13	First Pass	NC_000001.10	Chr1	203,719,370	203,748,933

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)
nssv18201840	<0.001	1	39300

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