A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466522



Internal ID15179901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114053497..114104774hg38UCSC Ensembl
Innerchr9:116815777..116867054hg19UCSC Ensembl
Innerchr9:115855598..115906875hg18UCSC Ensembl
Innerchr9:113895331..113946608hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3851278
hg1951278
hg1851278
hg1751278
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv945n27
Supporting Variantsnssv542050
SamplesHGDP00606
Known GenesAMBP, KIF12, ZNF618
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)nsv466522
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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