A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465804



Internal ID15525869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:126213494..126265081hg38UCSC Ensembl
Innerchr8:127225738..127277326hg19UCSC Ensembl
Innerchr8:127294920..127346508hg18UCSC Ensembl
Innerchr8:127294920..127346508hg17UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3851588
hg1951589
hg1851589
hg1751589
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541536
SamplesHGDP01290
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)nsv465804
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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