A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557778



Internal ID15998501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:24738241..25054719hg38UCSC Ensembl
Innerchr12:24891175..25207653hg19UCSC Ensembl
Innerchr12:24782442..25098920hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38316479
hg19316479
hg18316479
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2412n54
Supporting Variantsnssv1175450
SamplesHGDP01379
Known GenesBCAT1, C12orf77, LRMP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557778
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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