A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466488



Internal ID15179867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:112519756..112609117hg38UCSC Ensembl
Innerchr9:115282036..115371397hg19UCSC Ensembl
Innerchr9:114321857..114411218hg18UCSC Ensembl
Innerchr9:112361591..112450952hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3889362
hg1989362
hg1889362
hg1789362
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542018
SamplesNINDS_93
Known GenesKIAA1958
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)nsv466488
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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