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dbVar

Database of genomic structural variation

nsv6125378

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:48

Description:nsv5537357 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: 150 SVs from 30 studies. See in: genome view

Remapped(Score: Perfect):26,497,492-26,497,539

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6125378	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	26,497,492	26,497,539
nsv6125378	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	26,650,425	26,650,472

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17676052	insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17676052	Remapped	Perfect	NC_000012.12:g.264 97492_26497539ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	26,497,492	26,497,539
nssv17676052	Submitted genomic		NC_000012.11:g.266 50425_26650472ins?	GRCh37 (hg19)		NC_000012.11	Chr12	26,650,425	26,650,472

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)
nssv17676052	0.97	4166	4293

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