A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461967



Internal ID15175346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:9902228..9928750hg38UCSC Ensembl
Innerchr5:9902340..9928862hg19UCSC Ensembl
Innerchr5:9955340..9981862hg18UCSC Ensembl
Innerchr5:9955340..9981862hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3826523
hg1926523
hg1826523
hg1726523
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv689n27
Supporting Variantsnssv538274
SamplesHGDP00620
Known GenesLOC285692
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)nsv461967
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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