A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16970630



Internal ID47747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:95731613..95731689hg38UCSC Ensembl
chr5:95067317..95067393hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5468585
Supporting Variants
Samples
Known GenesRHOBTB3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16970630
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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