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dbVar

Database of genomic structural variation

nsv4716621

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:nsv4501002 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: 122 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):36,994,603-36,994,603

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4716621	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	36,994,603	36,994,603
nsv4716621	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	37,568,740	37,568,740

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16230049	alu insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16230049	Remapped	Perfect	NC_000013.11:g.369 94603_36994604ins?	GRCh38.p12	First Pass	NC_000013.11	Chr13	36,994,603	36,994,603
nssv16230049	Submitted genomic		NC_000013.10:g.375 68740_37568741ins?	GRCh37 (hg19)		NC_000013.10	Chr13	37,568,740	37,568,740

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)
nssv16230049	0.128	2774	21680

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