A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5436741



Internal ID215349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:58928000..58936000hg38UCSC Ensembl
chr3:58913726..58921726hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16934586
Samples
Known GenesC3orf67
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5436741
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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