A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462447



Internal ID15522512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:130760567..130906736hg38UCSC Ensembl
Innerchr5:130096260..130242429hg19UCSC Ensembl
Innerchr5:130124159..130270328hg18UCSC Ensembl
Innerchr5:130124159..130270328hg17UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38146170
hg19146170
hg18146170
hg17146170
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538608
SamplesHGDP00676
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)nsv462447
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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