A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16905843



Internal ID4698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:86544094..86624224hg38UCSC Ensembl
chr1:87009777..87089907hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3880131
hg1980131
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423409
Supporting Variants
Samples
Known GenesCLCA4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16905843
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001562


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