A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558953



Internal ID16346362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52692842..52694700hg38UCSC Ensembl
Innerchr12:53086626..53088484hg19UCSC Ensembl
Innerchr12:51372893..51374751hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381859
hg191859
hg181859
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2638n54
Supporting Variantsnssv796147
Samples
Known GenesKRT77
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558953
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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