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dbVar

Database of genomic structural variation

nsv4717065

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:mobile element insertion
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1

Description:nsv4504457 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: 116 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):3,051,730-3,051,730

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4717065	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	3,051,730	3,051,730
nsv4717065	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	3,051,728	3,051,728

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16220898	alu insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16220898	Remapped	Perfect	NC_000019.10:g.305 1730_3051731ins?	GRCh38.p12	First Pass	NC_000019.10	Chr19	3,051,730	3,051,730
nssv16220898	Submitted genomic		NC_000019.9:g.3051 728_3051729ins?	GRCh37 (hg19)		NC_000019.9	Chr19	3,051,728	3,051,728

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)
nssv16220898	0.14	2877	20614

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