A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469488



Internal ID15529553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:80542303..80608873hg38UCSC Ensembl
Innerchr12:80936082..81002652hg19UCSC Ensembl
Innerchr12:79460213..79526783hg18UCSC Ensembl
Innerchr12:79438550..79505120hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3866571
hg1966571
hg1866571
hg1766571
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544346
SamplesHGDP00616
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)nsv469488
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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