A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527427



Internal ID303529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80661347..81015738hg38UCSC Ensembl
chr17:78635147..78989538hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38354392
hg19354392
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715020
Samples
Known GenesCHMP6, RPTOR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527427
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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