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

dbVar

Database of genomic structural variation

nsv3875272

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:170,046

Description:GRCh37/hg19 2q32.1-32.2(chr2:189298315-189468360)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: 388 SVs from 41 studies. See in: genome view

Remapped(Score: Perfect):188,433,588-188,603,633

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3875272	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	188,433,588	188,603,633
nsv3875272	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	189,298,315	189,468,360

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15152783	copy number loss	Multiple	Multiple	not provided	Likely benign	ClinVar	RCV000682021.1, VCV000562532.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15152783	Remapped	Perfect	NC_000002.12:g.(?_ 188433588)_(188603 633_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	188,433,588	188,603,633
nssv15152783	Submitted genomic		NC_000002.11:g.(?_ 189298315)_(189468 360_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	189,298,315	189,468,360

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
nssv15152783	GRCh37: NC_000002.11:g.(?_189298315)_(189468360_?)del	copy number loss	germline	not provided	Likely benign	ClinVar	RCV000682021.1, VCV000562532.1	1

No genotype data were submitted for this variant

You are here: NCBI