A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5455858



Internal ID233930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141387659..141398100hg38UCSC Ensembl
chr5:140767226..140777667hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3810442
hg1910442
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975415
Samples
Known GenesPCDHGA1, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5455858
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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