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dbVar

Database of genomic structural variation

nsv6976058

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:87

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: 87 SVs from 23 studies. See in: genome view

Submitted genomic93,996,313-93,996,399

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6976058	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	93,996,313	93,996,399
nsv6976058	Remapped	Perfect	GRCh37.p13	Primary Assembly	Second Pass	NC_000014.8	Chr14	94,462,659	94,462,745

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18616129	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
nssv18616129	Submitted genomic		NC_000014.9:g.9399 6313_93996399dup	GRCh38 (hg38)		NC_000014.9	Chr14	93,996,313	93,996,399
nssv18616129	Remapped	Perfect	NC_000014.8:g.9446 2659_94462745dup	GRCh37.p13	Second Pass	NC_000014.8	Chr14	94,462,659	94,462,745

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)
nssv18616129	0.012	2736	224174

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