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dbVar

Database of genomic structural variation

nsv5389568

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:529

Description:nsv4865259 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: 129 SVs from 36 studies. See in: genome view

Remapped(Score: Perfect):49,461,067-49,461,595

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5389568	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	49,461,067	49,461,595
nsv5389568	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	49,964,324	49,964,852

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16884019	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16884019	Remapped	Perfect	NC_000019.10:g.494 61067_49461595dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	49,461,067	49,461,595
nssv16884019	Submitted genomic		NC_000019.9:g.4996 4324_49964852dup	GRCh37 (hg19)		NC_000019.9	Chr19	49,964,324	49,964,852

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)
nssv16884019	0.507	8534	16834

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