A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465634



Internal ID15179013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:33349274..33408762hg38UCSC Ensembl
Innerchr8:33206792..33266280hg19UCSC Ensembl
Innerchr8:33326334..33385822hg18UCSC Ensembl
Innerchr8:33326334..33385822hg17UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3859489
hg1959489
hg1859489
hg1759489
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541406
SamplesHGDP00534
Known GenesFUT10
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)nsv465634
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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