A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485229



Internal ID262625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:94928928..94930776hg38UCSC Ensembl
chr9:97691210..97693058hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg381849
hg191849
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17025826
Samples
Known GenesC9orf3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5485229
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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