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dbVar

Database of genomic structural variation

nsv6970842

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:25,176

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: 2789 SVs from 87 studies. See in: genome view

Submitted genomic105,848,306-105,873,481

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6970842	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	105,848,306	105,873,481
nsv6970842	Remapped	Pass	GRCh37.p13	PATCHES	Second Pass	NW_004166863.1	Chr14\|NW_0 04166863.1	516,901	536,648

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18384707	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
nssv18384707	Submitted genomic		NC_000014.9:g.1058 48306_105873481del	GRCh38 (hg38)		NC_000014.9	Chr14	105,848,306	105,873,481
nssv18384707	Remapped	Pass	NW_004166863.1:g.5 16901_536648del	GRCh37.p13	Second Pass	NW_004166863.1	Chr14\|NW_0 04166863.1	516,901	536,648

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)
nssv18384707	4e-06	1	274436

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