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dbVar

Database of genomic structural variation

nsv6308878

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:52

Description:nsv5554152 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: 90 SVs from 22 studies. See in: genome view

Remapped(Score: Perfect):43,914,205-43,914,256

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6308878	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	43,914,205	43,914,256
nsv6308878	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	43,953,804	43,953,855

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17961824	sva insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17961824	Remapped	Perfect	NC_000007.14:g.439 14205_43914256ins?	GRCh38.p12	First Pass	NC_000007.14	Chr7	43,914,205	43,914,256
nssv17961824	Submitted genomic		NC_000007.13:g.439 53804_43953855ins?	GRCh37 (hg19)		NC_000007.13	Chr7	43,953,804	43,953,855

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)
nssv17961824	0.186	1193	6404

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