A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16981465



Internal ID55011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45172955..45179779hg38UCSC Ensembl
chr6:45140692..45147516hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg386825
hg196825
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5465951
Supporting Variants
Samples
Known GenesSUPT3H
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16981465
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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