A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584454



Internal ID16025177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:216660263..216712467hg38UCSC Ensembl
Innerchr2:217524986..217577190hg19UCSC Ensembl
Innerchr2:217233231..217285435hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3852205
hg1952205
hg1852205
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv931472
Samples
Known GenesIGFBP2, IGFBP5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584454
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer