A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557841



Internal ID16345250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27779952..27780804hg38UCSC Ensembl
Innerchr12:27932885..27933737hg19UCSC Ensembl
Innerchr12:27824152..27825004hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38853
hg19853
hg18853
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2424n54
Supporting Variantsnssv790040
Samples
Known GenesKLHL42
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557841
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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