A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584297



Internal ID16025020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:208155457..208452035hg38UCSC Ensembl
Innerchr2:209020181..209316760hg19UCSC Ensembl
Innerchr2:208728426..209025005hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38296579
hg19296580
hg18296580
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv930896
Samples
Known GenesC2orf80, CRYGA, IDH1, IDH1-AS1, LOC100507443, PIKFYVE, PTH2R
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584297
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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