A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557855



Internal ID16345264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27780118..27780856hg38UCSC Ensembl
Innerchr12:27933051..27933789hg19UCSC Ensembl
Innerchr12:27824318..27825056hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38739
hg19739
hg18739
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2428n54
Supporting Variantsnssv790079
Samples
Known GenesKLHL42
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557855
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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