A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175902



Internal ID15507994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132736267..132769626hg38UCSC Ensembl
Innerchr12:133312853..133346212hg19UCSC Ensembl
Innerchr12:131822926..131856285hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3833360
hg1933360
hg1833360
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv561129
Supporting Variants
Samples1780862275_A
Known GenesANKLE2, GOLGA3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175902
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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