A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557777



Internal ID15998500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:24738241..25052307hg38UCSC Ensembl
Innerchr12:24891175..25205241hg19UCSC Ensembl
Innerchr12:24782442..25096508hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38314067
hg19314067
hg18314067
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2412n54
Supporting Variantsnssv789648, nssv789649, nssv789647
Samples
Known GenesBCAT1, C12orf77, LRMP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557777
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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