A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466536



Internal ID15179915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114221790..114237348hg38UCSC Ensembl
Innerchr9:116984070..116999628hg19UCSC Ensembl
Innerchr9:116023891..116039449hg18UCSC Ensembl
Innerchr9:114063624..114079182hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3815559
hg1915559
hg1815559
hg1715559
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542061
Samples1798860192_A
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)nsv466536
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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