A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523163



Internal ID15103770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176931607..177242486hg38UCSC Ensembl
Innerchr5:176358608..176669487hg19UCSC Ensembl
Innerchr5:176291214..176602093hg18UCSC Ensembl
Innerchr5:176291214..176602093hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38310880
hg19310880
hg18310880
hg17310880
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv363n21
Supporting Variantsnssv698874
Samples
Known GenesFGFR4, NSD1, UIMC1, ZNF346
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523163
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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