A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2790632



Internal ID15261555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27495406..27502170hg38UCSC Ensembl
Innerchr12:27648339..27655103hg19UCSC Ensembl
Innerchr12:27539606..27546370hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg386765
hg196765
hg186765
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514659
Supporting Variants
SamplesNA11829
Known GenesSMCO2
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2790632
Frequency
Sample Size2366
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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