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

dbVar

Database of genomic structural variation

nsv4450701

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:261,503

Description:GRCh37/hg19 2p16.1(chr2:55378531-55640033)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: 943 SVs from 61 studies. See in: genome view

Remapped(Score: Perfect):55,151,395-55,412,897

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4450701	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	55,151,395	55,412,897
nsv4450701	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	55,378,531	55,640,033

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15774635	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000846175.2, VCV000685467.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15774635	Remapped	Perfect	NC_000002.12:g.(?_ 55151395)_(5541289 7_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	55,151,395	55,412,897
nssv15774635	Submitted genomic		NC_000002.11:g.(?_ 55378531)_(5564003 3_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	55,378,531	55,640,033

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
nssv15774635	GRCh37: NC_000002.11:g.(?_55378531)_(55640033_?)dup	copy number gain	unknown	not provided	Uncertain significance	ClinVar	RCV000846175.2, VCV000685467.2	3

No genotype data were submitted for this variant

You are here: NCBI