A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439427



Internal ID217964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:134538745..134538934hg38UCSC Ensembl
chr3:134257587..134257776hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939257
Samples
Known GenesCEP63
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439427
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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