A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16945300



Internal ID30875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1075361..1075416hg38UCSC Ensembl
chr4:1069149..1069204hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443825
Supporting Variants
Samples
Known GenesRNF212
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16945300
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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