A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5528814



Internal ID304855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:37156918..37157041hg38UCSC Ensembl
chr18:34736881..34737004hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717400
Samples
Known GenesKIAA1328
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5528814
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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