A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467993



Internal ID245800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:67588007..67588661hg38UCSC Ensembl
chr4:68453725..68454379hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38655
hg19655
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16949496
Samples
Known GenesSTAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467993
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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