A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16950073



Internal ID34069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54062885..54062936hg38UCSC Ensembl
chr4:54929052..54929103hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5401377
Supporting Variants
Samples
Known GenesCHIC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16950073
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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