A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17043460



Internal ID96693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133200862..133379746hg38UCSC Ensembl
chr10:135014366..135193250hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38178885
hg19178885
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504019
Supporting Variants
Samples
Known GenesADAM8, CALY, ECHS1, FUOM, KNDC1, MIR202, MIR202HG, MIR3944, PAOX, PRAP1, TUBGCP2, UTF1, VENTX, ZNF511
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17043460
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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