A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175886



Internal ID15855201
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
Samples1780862470_A
Known GenesPTPRQ
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175886
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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