Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv4649218

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:copy number variation
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:93

Description:nsv4522847 from gnomAD Structural Variants. 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: 84 SVs from 20 studies. See in: genome view

Remapped(Score: Perfect):39,905,999-39,906,091

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4649218	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	39,905,999	39,906,091
nsv4649218	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	39,873,775	39,873,867

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16157235	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16157235	Remapped	Perfect	NC_000006.12:g.399 05999_39906091dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	39,905,999	39,906,091
nssv16157235	Submitted genomic		NC_000006.11:g.398 73775_39873867dup	GRCh37 (hg19)		NC_000006.11	Chr6	39,873,775	39,873,867

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)
nssv16157235	0.013	279	21658

You are here: NCBI