A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437305



Internal ID215897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:43303325..43358138hg38UCSC Ensembl
chr3:43344817..43399630hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3854814
hg1954814
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16931968
Samples
Known GenesSNRK, SNRK-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5437305
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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