A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576168



Internal ID16363577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80946881..80982174hg38UCSC Ensembl
Innerchr17:78920681..78955974hg19UCSC Ensembl
Innerchr17:76535276..76570569hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3835294
hg1935294
hg1835294
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv877105
Samples
Known GenesRPTOR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576168
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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