A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584489



Internal ID16025212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:218833281..218976169hg38UCSC Ensembl
Innerchr2:219698004..219840891hg19UCSC Ensembl
Innerchr2:219406248..219549135hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38142889
hg19142888
hg18142888
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7296n54
Supporting Variantsnssv931572
Samples
Known GenesCDK5R2, WNT10A, WNT6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584489
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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