A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv899092



Internal ID6306103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53070392..53123269hg19UCSC Ensembl
Outerchr12:53068633..53124472hg19UCSC Ensembl
Innerchr12:51356659..51409536hg18UCSC Ensembl
Outerchr12:51354900..51410739hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1524211
SamplesSP54913
Known GenesKRT1, KRT77
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv899092
Frequency
Sample Size6533
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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