A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5465476



Internal ID243339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:57931929..58692366hg38UCSC Ensembl
chr5:57227756..57988193hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38760438
hg19760438
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16967845
Samples
Known GenesGAPT, LOC101928569, PLK2, RAB3C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5465476
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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