A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3725171



Internal ID18676766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80534340..80557095hg38UCSC Ensembl
Innerchr17:78508140..78530895hg19UCSC Ensembl
Innerchr17:76122735..76145490hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3822756
hg1922756
hg1822756
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1056989
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)nssv3725171
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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