A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462453



Internal ID15522518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:133128857..133152975hg38UCSC Ensembl
Innerchr5:132464549..132488667hg19UCSC Ensembl
Innerchr5:132492448..132516566hg18UCSC Ensembl
Innerchr5:132492448..132516566hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3824119
hg1924119
hg1824119
hg1724119
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538612
SamplesHGDP01359
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)nsv462453
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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