A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462598



Internal ID240525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149508286..149508532hg38UCSC Ensembl
chr5:148887849..148888095hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974742
Samples
Known GenesCSNK1A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462598
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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