A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975422



Internal ID51005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141414902..141432511hg38UCSC Ensembl
chr5:140794469..140812078hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3817610
hg1917610
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5459155
Supporting Variants
Samples
Known GenesPCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGB8P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975422
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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