A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530480



Internal ID306464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:41155455..42122070hg38UCSC Ensembl
chr18:38735419..39702034hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38966616
hg19966616
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717622
Samples
Known GenesKC6, PIK3C3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530480
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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