A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576166



Internal ID16363575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80920714..80946120hg38UCSC Ensembl
Innerchr17:78894514..78919920hg19UCSC Ensembl
Innerchr17:76509109..76534515hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3825407
hg1925407
hg1825407
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150002
SamplesNINDS_22
Known GenesRPTOR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576166
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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