A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547055



Internal ID320941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:159270855..159270862hg38UCSC Ensembl
chr5:158697863..158697870hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975289
Samples
Known GenesUBLCP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547055
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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