A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466480



Internal ID15179859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:110067939..110096621hg38UCSC Ensembl
Innerchr9:112830219..112858901hg19UCSC Ensembl
Innerchr9:111870040..111898722hg18UCSC Ensembl
Innerchr9:109909774..109938456hg17UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg3828683
hg1928683
hg1828683
hg1728683
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542010
SamplesHGDP01417
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)nsv466480
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer