A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558922



Internal ID15999645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52313066..52314636hg38UCSC Ensembl
Innerchr12:52706850..52708420hg19UCSC Ensembl
Innerchr12:50993117..50994687hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381571
hg191571
hg181571
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv795992
Samples
Known GenesKRT83
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558922
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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