A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5481800



Internal ID259269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:13250912..13252430hg38UCSC Ensembl
chr9:13250911..13252429hg19UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg381519
hg191519
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17022381
Samples
Known GenesMPDZ
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5481800
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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