A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129597



Internal ID19247918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:80831758..80831839hg38UCSC Ensembl
Outerchr17:78805558..78805639hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3963870
SamplesKWS1
Known GenesRPTOR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129597
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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