A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv927180



Internal ID15874450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:178077575..178128835hg38UCSC Ensembl
Innerchr2:178942302..178993562hg19UCSC Ensembl
Innerchr2:178650548..178701808hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3851261
hg1951261
hg1851261
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv583739
Supporting Variants
Samples
Known GenesPDE11A, RBM45
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv927180
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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