A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16959553



Internal ID40340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:179449895..179449946hg38UCSC Ensembl
chr4:180371049..180371100hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5555383
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16959553
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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