A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428282



Internal ID18278046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53953285..54140862hg38UCSC Ensembl
Innerchr12:54347069..54534646hg19UCSC Ensembl
Innerchr12:52633336..52820913hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38187578
hg19187578
hg18187578
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452295
SamplesNA19113
Known GenesFLJ12825, HOTAIR, HOXC10, HOXC11, HOXC12, HOXC4, HOXC5, HOXC6, HOXC8, HOXC9, HOXC-AS1, HOXC-AS2, LOC100240734, LOC100240735, LOC400043, MIR196A2, MIR615
MethodBAC aCGH
AnalysisCopy number variable segments were automatically detected using the CNVfinder algorithm (Fiegler et al. 2006).
PlatformSanger H. sapiens Whole Genome Tile Path 28.7k v3
Comments
ReferencePerry_et_al_2008b
Pubmed ID18775914
Accession Number(s)nsv428282
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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