A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv805950



Internal ID16099906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132776229..132777867hg38UCSC Ensembl
Innerchr12:133352815..133354453hg19UCSC Ensembl
Innerchr12:131862888..131864526hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381639
hg191639
hg181639
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv561132
Supporting Variants
Samples
Known GenesGOLGA3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv805950
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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