A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16963399



Internal ID42922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:36252310..36252390hg38UCSC Ensembl
chr5:36252412..36252492hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5468542
Supporting Variants
Samples
Known GenesRANBP3L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16963399
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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