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dbVar

Database of genomic structural variation

nsv6975135

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:292,100

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: 5401 SVs from 106 studies. See in: genome view

Submitted genomic106,075,201-106,367,300

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6975135	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	106,075,201	106,367,300
nsv6975135	Remapped	Pass	GRCh37.p13	PATCHES	Second Pass	NW_004166863.1	Chr14\|NW_0 04166863.1	738,368	1,008,126

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18384794	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
nssv18384794	Submitted genomic		NC_000014.9:g.1060 75201_106367300del	GRCh38 (hg38)		NC_000014.9	Chr14	106,075,201	106,367,300
nssv18384794	Remapped	Pass	NW_004166863.1:g.7 38368_1008126del	GRCh37.p13	Second Pass	NW_004166863.1	Chr14\|NW_0 04166863.1	738,368	1,008,126

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)
nssv18384794	0.008	1929	248428

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