A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978291



Internal ID52919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178707969..178727085hg38UCSC Ensembl
chr5:178134970..178154086hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3819117
hg1919117
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5464042
Supporting Variants
Samples
Known GenesZNF354A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978291
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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