A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5535956



Internal ID311526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38814133..38821191hg38UCSC Ensembl
chr22:39210138..39217196hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg387059
hg197059
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728962
Samples
Known GenesNPTXR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5535956
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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