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dbVar

Database of genomic structural variation

nsv5387399

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:3,585

Description:nsv4790538 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: 135 SVs from 48 studies. See in: genome view

Remapped(Score: Perfect):46,664,251-46,667,835

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5387399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	46,664,251	46,667,835
nsv5387399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	46,705,741	46,709,325

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16879651	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16879651	Remapped	Perfect	NC_000003.12:g.466 64251_46667835del	GRCh38.p12	First Pass	NC_000003.12	Chr3	46,664,251	46,667,835
nssv16879651	Submitted genomic		NC_000003.11:g.467 05741_46709325del	GRCh37 (hg19)		NC_000003.11	Chr3	46,705,741	46,709,325

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)
nssv16879651	0.012	207	16834

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