A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16968293



Internal ID46181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:65562289..65562407hg38UCSC Ensembl
chr5:64858116..64858234hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5455485
Supporting Variants
Samples
Known GenesCENPK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16968293
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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