A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465455



Internal ID15525520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8461340..8591178hg38UCSC Ensembl
Innerchr8:8318850..8448688hg19UCSC Ensembl
Innerchr8:8356260..8486098hg18UCSC Ensembl
Innerchr8:8356260..8486098hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38129839
hg19129839
hg18129839
hg17129839
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv864n27
Supporting Variantsnssv541250
SamplesHGDP00946
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)nsv465455
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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