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dbVar

Database of genomic structural variation

nsv6668054

Organism: Homo sapiens

Study:nstd229 (Jun et al. 2023)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:438

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: 117 SVs from 37 studies. See in: genome view

Submitted genomic71,045,502-71,045,939

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6668054	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	71,045,502	71,045,939
nsv6668054	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	71,272,632	71,273,069

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18468287	deletion	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18468287	Submitted genomic		NC_000002.12:g.710 45502_71045939del	GRCh38 (hg38)		NC_000002.12	Chr2	71,045,502	71,045,939
nssv18468287	Remapped	Perfect	NC_000002.11:g.712 72632_71273069del	GRCh37.p13	First Pass	NC_000002.11	Chr2	71,272,632	71,273,069

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)
nssv18468287	0.006	1549	246120

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