A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5491852



Internal ID269079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:6543199..6875285hg38UCSC Ensembl
chr9:6543199..6875285hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg38332087
hg19332087
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17019669
Samples
Known GenesGLDC, KDM4C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5491852
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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