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dbVar

Database of genomic structural variation

nsv6541080

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:2,300

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: 133 SVs from 26 studies. See in: genome view

Submitted genomic42,856,601-42,858,900

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6541080	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000022.11	Chr22	42,856,601	42,858,900
nsv6541080	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000022.10	Chr22	43,252,607	43,254,906

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18207521	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18207521	Submitted genomic		NC_000022.11:g.428 56601_42858900dup	GRCh38 (hg38)		NC_000022.11	Chr22	42,856,601	42,858,900
nssv18207521	Remapped	Perfect	NC_000022.10:g.432 52607_43254906dup	GRCh37.p13	First Pass	NC_000022.10	Chr22	43,252,607	43,254,906

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)
nssv18207521	<0.001	3	36182

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