A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464216



Internal ID242097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154025502..154025709hg38UCSC Ensembl
chr5:153405062..153405269hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975204
Samples
Known GenesFAM114A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464216
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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