A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv805540



Internal ID15752810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132304118..132305527hg38UCSC Ensembl
Innerchr12:132880704..132882113hg19UCSC Ensembl
Innerchr12:131390777..131392186hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381410
hg191410
hg181410
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560988
Supporting Variants
Samples
Known GenesGALNT9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv805540
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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