A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466359



Internal ID15526424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:29218909..30143232hg38UCSC Ensembl
Innerchr9:29218907..30143230hg19UCSC Ensembl
Innerchr9:29208907..30133230hg18UCSC Ensembl
Innerchr9:29208907..30133230hg17UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg38924324
hg19924324
hg18924324
hg17924324
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541919
Samples1780854339_A
Known Genes
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)nsv466359
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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