A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064753



Internal ID19153972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80627604..80660367hg38UCSC Ensembl
Innerchr17:78601404..78634167hg19UCSC Ensembl
Innerchr17:76215999..76248762hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3832764
hg1932764
hg1832764
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3567863
Samples
Known GenesRPTOR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064753
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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