A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467763



Internal ID245573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141408199..141417843hg38UCSC Ensembl
chr5:140787766..140797410hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg389645
hg199645
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975419
Samples
Known GenesPCDHGA1, PCDHGA10, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467763
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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