A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5455099



Internal ID233185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178313958..178322607hg38UCSC Ensembl
chr5:177740959..177749608hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg388650
hg198650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16978233
Samples
Known GenesCOL23A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5455099
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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