A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559216



Internal ID16346625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:67533613..67534316hg38UCSC Ensembl
Innerchr12:67927393..67928096hg19UCSC Ensembl
Innerchr12:66213660..66214363hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38704
hg19704
hg18704
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2683n54
Supporting Variantsnssv797582, nssv797573, nssv797571, nssv797580, nssv797568, nssv797579, nssv797575, nssv797584, nssv797566, nssv797570, nssv797567, nssv797565, nssv797578, nssv797583, nssv797569, nssv797576, nssv797564, nssv797574, nssv797581, nssv797572, nssv797577
Samples
Known GenesLOC100507175
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559216
Frequency
Sample Size17421
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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