A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561125



Internal ID16348534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132729415..132730003hg38UCSC Ensembl
Innerchr12:133306001..133306589hg19UCSC Ensembl
Innerchr12:131816074..131816662hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38589
hg19589
hg18589
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv805942, nssv805944, nssv805943
Samples
Known GenesANKLE2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561125
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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