A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17704247



Internal ID127913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:64989894..64989916hg38UCSC Ensembl
chr15:65282232..65282254hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5542308
Supporting Variants
Samples
Known GenesSPG21
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17704247
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.037781


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