A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175885



Internal ID15853825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:80503617..80547822hg38UCSC Ensembl
Innerchr12:80897396..80941601hg19UCSC Ensembl
Innerchr12:79421527..79465732hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3844206
hg1944206
hg1844206
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559457
Supporting Variants
Samples1780854449_A
Known GenesPTPRQ
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175885
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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