A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16962782



Internal ID42509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:19446342..19474474hg38UCSC Ensembl
chr5:19446451..19474583hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3828133
hg1928133
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5468822
Supporting Variants
Samples
Known GenesCDH18
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16962782
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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