A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454128



Internal ID232231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131365203..131368146hg38UCSC Ensembl
chr5:130700896..130703839hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg382944
hg192944
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16973539
Samples
Known GenesCDC42SE2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454128
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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