A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428281



Internal ID5947832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52964438..53155227hg19UCSC Ensembl
Innerchr12:51250705..51441494hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv452293
SamplesHGDP00463
Known GenesKRT1, KRT2, KRT72, KRT73, KRT74, KRT77
Method
AnalysisCNVRs were generated by merging all individual human CNV calls.
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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