A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5458250



Internal ID236279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:85624000..85664000hg38UCSC Ensembl
chr4:86545153..86585153hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg3840001
hg1940001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16953680
Samples
Known GenesARHGAP24
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5458250
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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