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dbVar

Database of genomic structural variation

nsv2821041

Organism: Homo sapiens

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

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

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: 417 SVs from 30 studies. See in: genome view

Submitted genomic92,331,290-92,331,290

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv2821041	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	92,331,290	92,331,290
nsv2821041	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	91,586,289	91,586,289

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv13699472	insertion	Sequencing	Genotyping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv13699472	Submitted genomic		NC_000023.11:g.923 31290_92331291ins5 4	GRCh38 (hg38)		NC_000023.11	ChrX	92,331,290	92,331,290
nssv13699472	Remapped	Perfect	NC_000023.10:g.915 86289_91586290ins5 4	GRCh37.p13	First Pass	NC_000023.10	ChrX	91,586,289	91,586,289

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)
nssv13699472	0.667	40	60

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