A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv798911



Internal ID16092867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:80503617..80545605hg38UCSC Ensembl
Innerchr12:80897396..80939384hg19UCSC Ensembl
Innerchr12:79421527..79463515hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3841989
hg1941989
hg1841989
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559456
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)nssv798911
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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