A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518607



Internal ID15445900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141544..305917hg38UCSC Ensembl
Innerchr5:141659..306032hg19UCSC Ensembl
Innerchr5:194659..359032hg18UCSC Ensembl
Innerchr5:194659..359032hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38164374
hg19164374
hg18164374
hg17164374
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696054
Samples
Known GenesAHRR, CCDC127, LOC102467073, LRRC14B, PDCD6, PLEKHG4B, SDHA
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518607
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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