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dbVar

Database of genomic structural variation

nsv6130048

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:126

Description:nsv5537687 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: 240 SVs from 42 studies. See in: genome view

Remapped(Score: Perfect):1,923,745-1,923,870

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6130048	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	1,923,745	1,923,870
nsv6130048	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	1,923,744	1,923,869

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17958902	insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17958902	Remapped	Perfect	NC_000019.10:g.192 3745_1923870ins?	GRCh38.p12	First Pass	NC_000019.10	Chr19	1,923,745	1,923,870
nssv17958902	Submitted genomic		NC_000019.9:g.1923 744_1923869ins?	GRCh37 (hg19)		NC_000019.9	Chr19	1,923,744	1,923,869

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)
nssv17958902	0.507	2710	5350

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