A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3567863



Internal ID18866144
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 StatusS
Merged Variantsnsv1064753
Supporting Variants
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)nssv3567863
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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