A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17011548



Internal ID75356
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 StatusS
Merged Variantsnsv5485653
Supporting Variants
Samples
Known GenesPXDNL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17011548
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001719


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