A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462369



Internal ID15522434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:106020189..106062774hg38UCSC Ensembl
Innerchr5:105355890..105398475hg19UCSC Ensembl
Innerchr5:105383789..105426374hg18UCSC Ensembl
Innerchr5:105383789..105426374hg17UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3842586
hg1942586
hg1842586
hg1742586
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv719n27
Supporting Variantsnssv538548
SamplesHGDP00926
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)nsv462369
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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