A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16959341



Internal ID40202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:174320517..174320517hg38UCSC Ensembl
chr4:175241668..175241668hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg382635
hg192635
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5542731
Supporting Variants
Samples
Known GenesCEP44
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16959341
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.683712


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