A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16958113



Internal ID39395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:150133534..150133585hg38UCSC Ensembl
chr4:151054686..151054737hg19UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5399086
Supporting Variants
Samples
Known GenesDCLK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16958113
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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