A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523417



Internal ID15104024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:81115790..81164271hg38UCSC Ensembl
Innerchr17:79089590..79138071hg19UCSC Ensembl
Innerchr17:76704185..76752666hg18UCSC Ensembl
Innerchr17:76704185..76752666hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3848482
hg1948482
hg1848482
hg1748482
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699169
Samples
Known GenesAATK, BAIAP2, MIR1250, MIR3065, MIR338, MIR657
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523417
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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