A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472962



Internal ID250664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:97161567..97206059hg38UCSC Ensembl
chr5:96497271..96541763hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3844493
hg1944493
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16971054
Samples
Known GenesRIOK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472962
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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