A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518477



Internal ID15445770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:78990442..79140710hg38UCSC Ensembl
Innerchr6:79700159..79850427hg19UCSC Ensembl
Innerchr6:79756878..79907146hg18UCSC Ensembl
Innerchr6:79756878..79907146hg17UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38150269
hg19150269
hg18150269
hg17150269
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694240
Samples
Known GenesPHIP
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518477
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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