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dbVar

Database of genomic structural variation

nsv5389413

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:438

Description:nsv4793872 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: 150 SVs from 25 studies. See in: genome view

Remapped(Score: Perfect):19,996,878-19,997,315

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5389413	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	19,996,878	19,997,315
nsv5389413	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	20,038,370	20,038,807

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16887490	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16887490	Remapped	Perfect	NC_000003.12:g.199 96878_19997315dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	19,996,878	19,997,315
nssv16887490	Submitted genomic		NC_000003.11:g.200 38370_20038807dup	GRCh37 (hg19)		NC_000003.11	Chr3	20,038,370	20,038,807

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)
nssv16887490	0.07	1174	16834

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