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dbVar

Database of genomic structural variation

nsv6130121

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:5

Description:nsv5544305 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: 169 SVs from 18 studies. See in: genome view

Remapped(Score: Perfect):32,984,546-32,984,550

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6130121	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	32,984,546	32,984,550
nsv6130121	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	30,564,510	30,564,514

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17958484	insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17958484	Remapped	Perfect	NC_000018.10:g.329 84546_32984550ins?	GRCh38.p12	First Pass	NC_000018.10	Chr18	32,984,546	32,984,550
nssv17958484	Submitted genomic		NC_000018.9:g.3056 4510_30564514ins?	GRCh37 (hg19)		NC_000018.9	Chr18	30,564,510	30,564,514

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)
nssv17958484	0.019	120	6404

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