A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557886



Internal ID16345295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:28546231..28592397hg38UCSC Ensembl
Innerchr12:28699164..28745330hg19UCSC Ensembl
Innerchr12:28590431..28636597hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3846167
hg1946167
hg1846167
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2437n54
Supporting Variantsnssv1175461
SamplesHGDP00285
Known GenesCCDC91
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557886
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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