A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504019



Internal ID280829
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 StatusM
Merged Variants
Supporting Variantsnssv17043460
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)nsv5504019
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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