A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462473



Internal ID15522538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:145206960..145275484hg38UCSC Ensembl
Innerchr5:144586523..144655047hg19UCSC Ensembl
Innerchr5:144566716..144635240hg18UCSC Ensembl
Innerchr5:144566716..144635240hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3868525
hg1968525
hg1868525
hg1768525
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538628
Samples1780862380_A
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)nsv462473
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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