A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16948511



Internal ID33045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:22590995..23538734hg38UCSC Ensembl
chr4:22592618..23540357hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38947740
hg19947740
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5563071
Supporting Variants
Samples
Known GenesGBA3, MIR548AJ2
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16948511
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000312


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