A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466481



Internal ID15179860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:110157008..110175898hg38UCSC Ensembl
Innerchr9:112919288..112938178hg19UCSC Ensembl
Innerchr9:111959109..111977999hg18UCSC Ensembl
Innerchr9:109998843..110017733hg17UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg3818891
hg1918891
hg1818891
hg1718891
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542011
SamplesHGDP00925
Known GenesAKAP2, PALM2-AKAP2
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)nsv466481
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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