A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467391



Internal ID245205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141051900..141051964hg38UCSC Ensembl
chr5:140431485..140431549hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16976165
Samples
Known GenesLOC101926905, PCDHB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467391
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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