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dbVar

Database of genomic structural variation

nsv5389339

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:copy number variation
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:350

Description:nsv4804744 from Abel et. al 2020. For a full list of variants now included in nstd186, refer to the mapping file provided here.

Links to Other Resources

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: 277 SVs from 31 studies. See in: genome view

Remapped(Score: Perfect):241,115,454-241,115,803

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5389339	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	241,115,454	241,115,803
nsv5389339	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	242,054,869	242,055,218

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16875981	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16875981	Remapped	Perfect	NC_000002.12:g.241 115454_241115803du p	GRCh38.p12	First Pass	NC_000002.12	Chr2	241,115,454	241,115,803
nssv16875981	Submitted genomic		NC_000002.11:g.242 054869_242055218du p	GRCh37 (hg19)		NC_000002.11	Chr2	242,054,869	242,055,218

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv16875981	0.214	3594	16834

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