A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454311



Internal ID232413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75531063..75709125hg38UCSC Ensembl
chr5:74826888..75004950hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38178063
hg19178063
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17735387
Samples
Known GenesANKDD1B, POC5, POLK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454311
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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