A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557831



Internal ID16345240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27779899..27780611hg38UCSC Ensembl
Innerchr12:27932832..27933544hg19UCSC Ensembl
Innerchr12:27824099..27824811hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38713
hg19713
hg18713
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2423n54
Supporting Variantsnssv789980, nssv789978, nssv789977, nssv789979
Samples
Known GenesKLHL42
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557831
Frequency
Sample Size17421
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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