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dbVar

Database of genomic structural variation

nsv6836159

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:133,878

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: 460 SVs from 57 studies. See in: genome view

Submitted genomic47,884,329-48,018,206

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6836159	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	47,884,329	48,018,206
nsv6836159	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	47,923,927	48,057,803

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18726399	duplication	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
nssv18726399	Submitted genomic		NC_000007.14:g.478 84329_48018206dup	GRCh38 (hg38)		NC_000007.14	Chr7	47,884,329	48,018,206
nssv18726399	Remapped	Good	NC_000007.13:g.479 23927_48057803dup	GRCh37.p13	First Pass	NC_000007.13	Chr7	47,923,927	48,057,803

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)
nssv18726399	4e-06	1	275650

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