A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561124



Internal ID16348533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132729415..132729621hg38UCSC Ensembl
Innerchr12:133306001..133306207hg19UCSC Ensembl
Innerchr12:131816074..131816280hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38207
hg19207
hg18207
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3057n54
Supporting Variantsnssv805932, nssv805937, nssv805940, nssv805934, nssv805938, nssv805939, nssv805935, nssv805941, nssv805936, nssv805933
Samples
Known GenesANKLE2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561124
Frequency
Sample Size17421
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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