A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065052



Internal ID18807583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:81080876..81204920hg38UCSC Ensembl
Innerchr17:79054676..79178720hg19UCSC Ensembl
Innerchr17:76669271..76793315hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38124045
hg19124045
hg18124045
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3567866
Samples
Known GenesAATK, AATK-AS1, AZI1, BAIAP2, MIR1250, MIR3065, MIR338, MIR657
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065052
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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