A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16968543



Internal ID46348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:81402859..81639728hg38UCSC Ensembl
chr5:80698678..80935547hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38236870
hg19236870
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5468346
Supporting Variants
Samples
Known GenesRNU5D-1, RNU5E-1, SSBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16968543
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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