A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv483069



Internal ID8549158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:35785417..35955982hg38UCSC Ensembl
Innerchr5:35785519..35956084hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38170566
hg19170566
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996482
Samples
Known GenesCAPSL, IL7R, LOC100506406, SPEF2, UGT3A1
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nsv483069
Frequency
Sample Size39
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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