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dbVar

Database of genomic structural variation

nsv5391614

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:365

Description:nsv4840079 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: 95 SVs from 29 studies. See in: genome view

Remapped(Score: Perfect):51,069,392-51,069,756

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5391614	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	51,069,392	51,069,756
nsv5391614	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	51,463,175	51,463,539

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16878270	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16878270	Remapped	Perfect	NC_000012.12:g.510 69392_51069756del	GRCh38.p12	First Pass	NC_000012.12	Chr12	51,069,392	51,069,756
nssv16878270	Submitted genomic		NC_000012.11:g.514 63175_51463539del	GRCh37 (hg19)		NC_000012.11	Chr12	51,463,175	51,463,539

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)
nssv16878270	0.04	676	16834

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