A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466531



Internal ID15526596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114154651..114178138hg38UCSC Ensembl
Innerchr9:116916931..116940418hg19UCSC Ensembl
Innerchr9:115956752..115980239hg18UCSC Ensembl
Innerchr9:113996485..114019972hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3823488
hg1923488
hg1823488
hg1723488
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv947n27
Supporting Variantsnssv542058
SamplesHGDP00774
Known GenesCOL27A1
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)nsv466531
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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