A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462445



Internal ID15522510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:130021159..130081234hg38UCSC Ensembl
Innerchr5:129356852..129416927hg19UCSC Ensembl
Innerchr5:129384751..129444826hg18UCSC Ensembl
Innerchr5:129384751..129444826hg17UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3860076
hg1960076
hg1860076
hg1760076
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538607
SamplesHGDP00070
Known GenesCHSY3
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)nsv462445
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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