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dbVar

Database of genomic structural variation

nsv6127090

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:43

Description:nsv5552780 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: 115 SVs from 27 studies. See in: genome view

Remapped(Score: Perfect):12,415,220-12,415,262

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6127090	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	12,415,220	12,415,262
nsv6127090	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	12,457,219	12,457,261

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17672973	insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17672973	Remapped	Perfect	NC_000010.11:g.124 15220_12415262ins?	GRCh38.p12	First Pass	NC_000010.11	Chr10	12,415,220	12,415,262
nssv17672973	Submitted genomic		NC_000010.10:g.124 57219_12457261ins?	GRCh37 (hg19)		NC_000010.10	Chr10	12,457,219	12,457,261

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)
nssv17672973	0.538	3368	6258

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