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dbVar

Database of genomic structural variation

nsv5386949

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:70

Description:nsv4807034 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: 137 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):125,343,477-125,343,546

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5386949	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	125,343,477	125,343,546
nsv5386949	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	125,062,321	125,062,390

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16886891	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16886891	Remapped	Perfect	NC_000003.12:g.125 343477_125343546de l	GRCh38.p12	First Pass	NC_000003.12	Chr3	125,343,477	125,343,546
nssv16886891	Submitted genomic		NC_000003.11:g.125 062321_125062390de l	GRCh37 (hg19)		NC_000003.11	Chr3	125,062,321	125,062,390

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)
nssv16886891	0.234	3945	16834

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