A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538611



Internal ID15163403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:132408085..132468815hg38UCSC Ensembl
Innerchr5:131743777..131804507hg19UCSC Ensembl
Innerchr5:131771676..131832406hg18UCSC Ensembl
Innerchr5:131771676..131832406hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3860731
hg1960731
hg1860731
hg1760731
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462452
Supporting Variants
SamplesHGDP01187
Known GenesC5orf56
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)nssv538611
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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