A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462052



Internal ID239988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141206000..141225659hg38UCSC Ensembl
chr5:140585572..140605231hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3819660
hg1919660
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974601
Samples
Known GenesPCDHB12, PCDHB13, PCDHB14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462052
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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