A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538570



Internal ID15159386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:115109326..115140077hg38UCSC Ensembl
Innerchr5:114445023..114475774hg19UCSC Ensembl
Innerchr5:114472922..114503673hg18UCSC Ensembl
Innerchr5:114472922..114503673hg17UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3830752
hg1930752
hg1830752
hg1730752
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462398
Supporting Variants
SamplesHGDP00356
Known GenesTRIM36
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)nssv538570
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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