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dbVar

Database of genomic structural variation

nsv6130620

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:52

Description:nsv5551832 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: 216 SVs from 25 studies. See in: genome view

Remapped(Score: Perfect):9,716,933-9,716,984

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6130620	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	9,716,933	9,716,984
nsv6130620	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	9,716,930	9,716,981

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17958389	insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17958389	Remapped	Perfect	NC_000018.10:g.971 6933_9716984ins?	GRCh38.p12	First Pass	NC_000018.10	Chr18	9,716,933	9,716,984
nssv17958389	Submitted genomic		NC_000018.9:g.9716 930_9716981ins?	GRCh37 (hg19)		NC_000018.9	Chr18	9,716,930	9,716,981

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)
nssv17958389	0.124	795	6404

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