A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428281



Internal ID11591713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52570654..52761443hg38UCSC Ensembl
Innerchr12:52964438..53155227hg19UCSC Ensembl
Innerchr12:51250705..51441494hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38190790
hg19190790
hg18190790
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452293
SamplesHGDP00463
Known GenesKRT1, KRT2, KRT72, KRT73, KRT74, KRT77
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)nsv428281
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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