A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451171



Internal ID229357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129380519..129487453hg38UCSC Ensembl
chr3:129099362..129206296hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38106935
hg19106935
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939162
Samples
Known GenesEFCAB12, IFT122, MBD4, RPL32P3, SNORA7B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451171
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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