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dbVar

Database of genomic structural variation

nsv4648979

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:576

Description:nsv4110327 from gnomAD Structural Variants. 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: 108 SVs from 25 studies. See in: genome view

Remapped(Score: Perfect):186,071,518-186,072,093

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4648979	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	186,071,518	186,072,093
nsv4648979	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	185,789,307	185,789,882

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16158531	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16158531	Remapped	Perfect	NC_000003.12:g.186 071518_186072093de l	GRCh38.p12	First Pass	NC_000003.12	Chr3	186,071,518	186,072,093
nssv16158531	Submitted genomic		NC_000003.11:g.185 789307_185789882de l	GRCh37 (hg19)		NC_000003.11	Chr3	185,789,307	185,789,882

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)
nssv16158531	0.014	305	21610

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