A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472658



Internal ID250364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122873957..122875993hg38UCSC Ensembl
chr5:122209652..122211688hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg382037
hg192037
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16973435
Samples
Known GenesSNX24
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472658
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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