A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17708841



Internal ID132507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89495157..89509922hg38UCSC Ensembl
chr16:89561565..89576330hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3814766
hg1914766
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5529576
Supporting Variants
Samples
Known GenesSPG7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17708841
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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