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dbVar

Database of genomic structural variation

nsv5389374

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:899

Description:nsv4807320 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: 272 SVs from 49 studies. See in: genome view

Remapped(Score: Perfect):196,329,076-196,329,974

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5389374	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	196,329,076	196,329,974
nsv5389374	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	196,055,947	196,056,845

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16878789	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16878789	Remapped	Perfect	NC_000003.12:g.196 329076_196329974de l	GRCh38.p12	First Pass	NC_000003.12	Chr3	196,329,076	196,329,974
nssv16878789	Submitted genomic		NC_000003.11:g.196 055947_196056845de l	GRCh37 (hg19)		NC_000003.11	Chr3	196,055,947	196,056,845

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)
nssv16878789	0.285	4798	16834

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