A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466479



Internal ID15526544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:109748282..109769257hg38UCSC Ensembl
Innerchr9:112510562..112531537hg19UCSC Ensembl
Innerchr9:111550383..111571358hg18UCSC Ensembl
Innerchr9:109590117..109611092hg17UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg3820976
hg1920976
hg1820976
hg1720976
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542009
Samples1788485590_A
Known GenesPALM2
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)nsv466479
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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