A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584966



Internal ID16372375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241567462..241567855hg38UCSC Ensembl
Innerchr2:242506877..242507270hg19UCSC Ensembl
Innerchr2:242155550..242155943hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38394
hg19394
hg18394
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv934745, nssv934756, nssv934730, nssv934743, nssv934747, nssv934737, nssv934735, nssv934732, nssv934736, nssv934755, nssv934749, nssv934768, nssv934738, nssv934758, nssv934726, nssv934752, nssv934739, nssv934748, nssv934761, nssv934763, nssv934765, nssv934740, nssv934766, nssv934754, nssv934753, nssv934759, nssv934767, nssv934760, nssv934741, nssv934764, nssv934744, nssv934742, nssv934751, nssv934762, nssv934746, nssv934729, nssv934733, nssv934731, nssv934770, nssv934727, nssv934769, nssv934734, nssv934728, nssv934757, nssv934750
Samples
Known GenesBOK
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584966
Frequency
Sample Size17421
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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