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dbVar

Database of genomic structural variation

nsv5391737

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:442

Description:nsv5036895 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: 239 SVs from 42 studies. See in: genome view

Remapped(Score: Perfect):45,568,385-45,568,826

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5391737	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	45,568,385	45,568,826
nsv5391737	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	45,964,265	45,964,706

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16882643	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16882643	Remapped	Perfect	NC_000022.11:g.455 68385_45568826dup	GRCh38.p12	First Pass	NC_000022.11	Chr22	45,568,385	45,568,826
nssv16882643	Submitted genomic		NC_000022.10:g.459 64265_45964706dup	GRCh37 (hg19)		NC_000022.10	Chr22	45,964,265	45,964,706

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)
nssv16882643	0.11	3227	29246

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