A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175948



Internal ID15872931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:66524243..66595346hg38UCSC Ensembl
Innerchr13:67098375..67169478hg19UCSC Ensembl
Innerchr13:65996376..66067479hg18UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg3871104
hg1971104
hg1871104
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv562099
Supporting Variants
SamplesHGDP00080
Known GenesPCDH9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175948
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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