A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5460381



Internal ID238367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141097000..141102664hg38UCSC Ensembl
chr5:140476584..140482248hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg385665
hg195665
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974586
Samples
Known GenesPCDHB2, PCDHB3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5460381
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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