A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546006



Internal ID320003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:92520048..92520048hg38UCSC Ensembl
chr9:95282330..95282330hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17027416
Samples
Known GenesCENPP, ECM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546006
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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