A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557843



Internal ID16345252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27779952..27780909hg38UCSC Ensembl
Innerchr12:27932885..27933842hg19UCSC Ensembl
Innerchr12:27824152..27825109hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38958
hg19958
hg18958
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2424n54
Supporting Variantsnssv790046
Samples
Known GenesKLHL42
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557843
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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