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

dbVar

Database of genomic structural variation

nsv3882752

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:694,926

Description:GRCh37/hg19 6q14.2-14.3(chr6:84348995-85043919)x3 AND not provided

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: 1343 SVs from 64 studies. See in: genome view

Remapped(Score: Perfect):83,639,276-84,334,201

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3882752	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	83,639,276	84,334,201
nsv3882752	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	84,348,995	85,043,919

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15167117	copy number gain	Multiple	Multiple	not provided	Benign	ClinVar	RCV000745883.2, VCV000609247.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15167117	Remapped	Perfect	NC_000006.12:g.(?_ 83639276)_(8433420 1_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	83,639,276	84,334,201
nssv15167117	Submitted genomic		NC_000006.11:g.(?_ 84348995)_(8504391 9_?)dup	GRCh37 (hg19)		NC_000006.11	Chr6	84,348,995	85,043,919

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15167117	GRCh37: NC_000006.11:g.(?_84348995)_(85043919_?)dup	copy number gain	unknown	not provided	Benign	ClinVar	RCV000745883.2, VCV000609247.2	3

No genotype data were submitted for this variant

You are here: NCBI