A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16948250



Internal ID32870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:14422916..14472916hg38UCSC Ensembl
chr4:14424540..14474540hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg3850001
hg1950001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5449087
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16948250
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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