A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066388



Internal ID18808919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:59004652..59262620hg38UCSC Ensembl
Innerchr17:57082013..57339981hg19UCSC Ensembl
Innerchr17:54436795..54694763hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38257969
hg19257969
hg18257969
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3270n100
Supporting Variantsnssv3567708
Samples
Known GenesGDPD1, MIR301A, MIR454, PRR11, SKA2, SMG8, TRIM37
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066388
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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