A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466530



Internal ID15526595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114154651..114173380hg38UCSC Ensembl
Innerchr9:116916931..116935660hg19UCSC Ensembl
Innerchr9:115956752..115975481hg18UCSC Ensembl
Innerchr9:113996485..114015214hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3818730
hg1918730
hg1818730
hg1718730
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv947n27
Supporting Variantsnssv542057
SamplesNINDS_50
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)nsv466530
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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