A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465564



Internal ID15178943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:15562617..15585104hg38UCSC Ensembl
Innerchr8:15420126..15442613hg19UCSC Ensembl
Innerchr8:15464497..15486984hg18UCSC Ensembl
Innerchr8:15464497..15486984hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3822488
hg1922488
hg1822488
hg1722488
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541352
SamplesHGDP01302
Known GenesTUSC3
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)nsv465564
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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