A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176323



Internal ID15875150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:84647495..84718697hg38UCSC Ensembl
Innerchr12:85041274..85112476hg19UCSC Ensembl
Innerchr12:83565405..83636607hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3871203
hg1971203
hg1871203
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559643
Supporting Variants
SamplesHGDP00643
Known GenesMIR548T
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176323
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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