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

dbVar

Database of genomic structural variation

nsv4675008

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:79,312

Description:GRCh37/hg19 11p15.1(chr11:17873318-17952629)x1 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: 185 SVs from 53 studies. See in: genome view

Remapped(Score: Perfect):17,851,771-17,931,082

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4675008	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	17,851,771	17,931,082
nsv4675008	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	17,873,318	17,952,629

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16208909	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001006391.1, VCV000815414.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16208909	Remapped	Perfect	NC_000011.10:g.(?_ 17851771)_(1793108 2_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	17,851,771	17,931,082
nssv16208909	Submitted genomic		NC_000011.9:g.(?_1 7873318)_(17952629 _?)del	GRCh37 (hg19)		NC_000011.9	Chr11	17,873,318	17,952,629

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
nssv16208909	GRCh37: NC_000011.9:g.(?_17873318)_(17952629_?)del	copy number loss	germline	not provided	Uncertain significance	ClinVar	RCV001006391.1, VCV000815414.1	1

No genotype data were submitted for this variant

You are here: NCBI