A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462033



Internal ID15522098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:28792606..28874006hg38UCSC Ensembl
Innerchr5:28792713..28874113hg19UCSC Ensembl
Innerchr5:28828470..28909870hg18UCSC Ensembl
Innerchr5:28828470..28909870hg17UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg3881401
hg1981401
hg1881401
hg1781401
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv694n27
Supporting Variantsnssv538322
SamplesHGDP00933
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)nsv462033
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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