A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16981743



Internal ID55186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45947450..45947450hg38UCSC Ensembl
chr6:45915187..45915187hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5543037
Supporting Variants
Samples
Known GenesCLIC5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16981743
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002967


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