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

dbVar

Database of genomic structural variation

nsv3883853

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:263,261

Description:GRCh37/hg19 2p16.3(chr2:50964034-51227294)x1 AND See cases

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: 1270 SVs from 80 studies. See in: genome view

Remapped(Score: Perfect):50,736,896-51,000,156

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3883853	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	50,736,896	51,000,156
nsv3883853	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	50,964,034	51,227,294

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15142870	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000511405.2, VCV000441938.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15142870	Remapped	Perfect	NC_000002.12:g.(?_ 50736896)_(5100015 6_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	50,736,896	51,000,156
nssv15142870	Submitted genomic		NC_000002.11:g.(?_ 50964034)_(5122729 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	50,964,034	51,227,294

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
nssv15142870	GRCh37: NC_000002.11:g.(?_50964034)_(51227294_?)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000511405.2, VCV000441938.2	1

No genotype data were submitted for this variant

You are here: NCBI