A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450963



Internal ID229156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:119259683..119259792hg38UCSC Ensembl
chr2:120017259..120017368hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16918109
Samples
Known GenesSTEAP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450963
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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