A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061939



Internal ID18804470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:81019582..81170628hg38UCSC Ensembl
Innerchr17:78993382..79144428hg19UCSC Ensembl
Innerchr17:76607977..76759023hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38151047
hg19151047
hg18151047
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3292n100
Supporting Variantsnssv3567864
Samples
Known GenesAATK, AATK-AS1, BAIAP2, BAIAP2-AS1, 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)nsv1061939
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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