A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5455223



Internal ID233306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60675531..60675660hg38UCSC Ensembl
chr5:59971358..59971487hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965771
Samples
Known GenesDEPDC1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5455223
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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