A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469487



Internal ID15529552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:80503617..80554546hg38UCSC Ensembl
Innerchr12:80897396..80948325hg19UCSC Ensembl
Innerchr12:79421527..79472456hg18UCSC Ensembl
Innerchr12:79399864..79450793hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3850930
hg1950930
hg1850930
hg1750930
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv207n27
Supporting Variantsnssv544345
Samples1780862470_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)nsv469487
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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