A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16947246



Internal ID32193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39330454..39330662hg38UCSC Ensembl
chr4:39332074..39332282hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38209
hg19209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5462723
Supporting Variants
Samples
Known GenesMIR1273H, RFC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16947246
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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