A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17705519



Internal ID129185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:88475544..88482191hg38UCSC Ensembl
chr15:89018775..89025422hg19UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg386648
hg196648
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5529882
Supporting Variants
Samples
Known GenesMRPS11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17705519
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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