A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538435



Internal ID15158050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:79507955..79617020hg38UCSC Ensembl
Innerchr5:78803778..78912843hg19UCSC Ensembl
Innerchr5:78839534..78948599hg18UCSC Ensembl
Innerchr5:78839534..78948599hg17UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38109066
hg19109066
hg18109066
hg17109066
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462218
Supporting Variants
Samples1798860114_A
Known GenesHOMER1, PAPD4
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)nssv538435
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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