A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470882



Internal ID248628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:91278319..91280018hg38UCSC Ensembl
chr5:90574136..90575835hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg381700
hg191700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16970555
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470882
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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