A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv798913



Internal ID16092869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:80503617..80554546hg38UCSC Ensembl
Innerchr12:80897396..80948325hg19UCSC Ensembl
Innerchr12:79421527..79472456hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3850930
hg1950930
hg1850930
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559458
Supporting Variants
Samples
Known GenesPTPRQ
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv798913
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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