A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454555



Internal ID232654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179888422..179888480hg38UCSC Ensembl
chr5:179315422..179315480hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16979786
Samples
Known GenesTBC1D9B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454555
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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