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dbVar

Database of genomic structural variation

nsv5391724

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:339

Description:nsv5020863 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: 112 SVs from 33 studies. See in: genome view

Remapped(Score: Perfect):47,831,959-47,832,297

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5391724	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	47,831,959	47,832,297
nsv5391724	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	48,335,216	48,335,554

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16878310	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16878310	Remapped	Perfect	NC_000019.10:g.478 31959_47832297del	GRCh38.p12	First Pass	NC_000019.10	Chr19	47,831,959	47,832,297
nssv16878310	Submitted genomic		NC_000019.9:g.4833 5216_48335554del	GRCh37 (hg19)		NC_000019.9	Chr19	48,335,216	48,335,554

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)
nssv16878310	0.07	288	4130

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