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dbVar

Database of genomic structural variation

nsv4717332

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:nsv4514230 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: 262 SVs from 19 studies. See in: genome view

Remapped(Score: Perfect):63,482,700-63,482,700

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4717332	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	63,482,700	63,482,700
nsv4717332	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	61,149,933	61,149,933

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16230764	alu insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16230764	Remapped	Perfect	NC_000018.10:g.634 82700_63482701ins?	GRCh38.p12	First Pass	NC_000018.10	Chr18	63,482,700	63,482,700
nssv16230764	Submitted genomic		NC_000018.9:g.6114 9933_61149934ins?	GRCh37 (hg19)		NC_000018.9	Chr18	61,149,933	61,149,933

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)
nssv16230764	0.011	245	21676

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