A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447766



Internal ID226058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:17596792..17608520hg38UCSC Ensembl
chr3:17638284..17650012hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3811729
hg1911729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16930561
Samples
Known GenesTBC1D5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447766
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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