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dbVar

Database of genomic structural variation

nsv2803113

Organism: Homo sapiens

Study:nstd137 (Huddleston et al. 2016)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38 (hg38)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:13,878

Publication(s):Huddleston et al. 2016

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

Submitted genomic385,362-399,239

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv2803113	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000020.11	Chr20	385,362	399,239
nsv2803113	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	366,006	379,883

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv13692595	deletion	Sequencing	Genotyping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv13692595	Submitted genomic		NC_000020.11:g.385 362_399239del13878	GRCh38 (hg38)		NC_000020.11	Chr20	385,362	399,239
nssv13692595	Remapped	Perfect	NC_000020.10:g.366 006_379883del13878	GRCh37.p13	First Pass	NC_000020.10	Chr20	366,006	379,883

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)
nssv13692595	0.031	2	64

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