A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441808



Internal ID220260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:54633885..54633947hg38UCSC Ensembl
chr3:54667912..54667974hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16933528
Samples
Known GenesCACNA2D3, ESRG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441808
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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