A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5458998



Internal ID237017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:37143795..37144236hg38UCSC Ensembl
chr5:37143897..37144338hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38442
hg19442
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16964368
Samples
Known GenesC5orf42
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5458998
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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