A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5525222



Internal ID301394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45996443..46209010hg38UCSC Ensembl
chr18:43576409..43788976hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38212568
hg19212568
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717873
Samples
Known GenesATP5A1, C18orf25, HAUS1, PSTPIP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5525222
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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