A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465881



Internal ID15525946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136675987..136833690hg38UCSC Ensembl
Innerchr8:137688230..137845933hg19UCSC Ensembl
Innerchr8:137757412..137915115hg18UCSC Ensembl
Innerchr8:137757412..137915115hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38157704
hg19157704
hg18157704
hg17157704
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv898n27
Supporting Variantsnssv541594
SamplesHGDP00144
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)nsv465881
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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