A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469486



Internal ID15529551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:80503617..80547822hg38UCSC Ensembl
Innerchr12:80897396..80941601hg19UCSC Ensembl
Innerchr12:79421527..79465732hg18UCSC Ensembl
Innerchr12:79399864..79444069hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3844206
hg1944206
hg1844206
hg1744206
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv207n27
Supporting Variantsnssv544344
Samples1780854449_A
Known GenesPTPRQ
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv469486
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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