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dbVar

Database of genomic structural variation

nsv6129481

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:nsv5554416 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: 190 SVs from 32 studies. See in: genome view

Remapped(Score: Perfect):15,762,142-15,762,193

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6129481	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	15,762,142	15,762,193
nsv6129481	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	17,134,461	17,134,512

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17959960	line1 insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17959960	Remapped	Perfect	NC_000021.9:g.1576 2142_15762193ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	15,762,142	15,762,193
nssv17959960	Submitted genomic		NC_000021.8:g.1713 4461_17134512ins?	GRCh37 (hg19)		NC_000021.8	Chr21	17,134,461	17,134,512

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)
nssv17959960	0.104	610	5882

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