A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465765



Internal ID15525830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:111965150..112048403hg38UCSC Ensembl
Innerchr8:112977379..113060632hg19UCSC Ensembl
Innerchr8:113046555..113129808hg18UCSC Ensembl
Innerchr8:113046555..113129808hg17UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3883254
hg1983254
hg1883254
hg1783254
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541510
SamplesHGDP01347
Known Genes
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)nsv465765
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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