A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485653



Internal ID263037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:51743582..51746951hg38UCSC Ensembl
chr8:52656142..52659511hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg383370
hg193370
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011548
Samples
Known GenesPXDNL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5485653
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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