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dbVar

Database of genomic structural variation

nsv6813969

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:31

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: 83 SVs from 18 studies. See in: genome view

Submitted genomic159,744,204-159,744,234

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6813969	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	159,744,204	159,744,234
nsv6813969	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	160,165,236	160,165,266

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18522216	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
nssv18522216	Submitted genomic		NC_000006.12:g.159 744204_159744234de l	GRCh38 (hg38)		NC_000006.12	Chr6	159,744,204	159,744,234
nssv18522216	Remapped	Perfect	NC_000006.11:g.160 165236_160165266de l	GRCh37.p13	First Pass	NC_000006.11	Chr6	160,165,236	160,165,266

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)
nssv18522216	0.001	316	238646

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