A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16948182



Internal ID32820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:13378734..13378786hg38UCSC Ensembl
chr4:13380358..13380410hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5449906
Supporting Variants
Samples
Known GenesRAB28
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16948182
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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