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dbVar

Database of genomic structural variation

nsv6129812

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:52

Description:nsv5555266 from Byrska-Bishop et. al 2021. 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: 146 SVs from 33 studies. See in: genome view

Remapped(Score: Perfect):17,653,870-17,653,921

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6129812	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	17,653,870	17,653,921
nsv6129812	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	18,136,636	18,136,687

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17968190	sva insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17968190	Remapped	Perfect	NC_000022.11:g.176 53870_17653921ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	17,653,870	17,653,921
nssv17968190	Submitted genomic		NC_000022.10:g.181 36636_18136687ins?	GRCh37 (hg19)		NC_000022.10	Chr22	18,136,636	18,136,687

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)
nssv17968190	0.058	364	6328

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