A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5476247



Internal ID253861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:115248328..115248420hg38UCSC Ensembl
chr9:118010607..118010699hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17027820
Samples
Known GenesDEC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5476247
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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