A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16967845



Internal ID45882
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 StatusS
Merged Variantsnsv5465476
Supporting Variants
Samples
Known GenesGAPT, LOC101928569, PLK2, RAB3C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16967845
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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