A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438658



Internal ID217218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:23369800..23376916hg38UCSC Ensembl
chr4:23371423..23378539hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg387117
hg197117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16946320
Samples
Known GenesMIR548AJ2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438658
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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