A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5492554



Internal ID269764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:97368229..97368284hg38UCSC Ensembl
chr9:100130511..100130566hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17027562
Samples
Known GenesCCDC180, LOC100499484-C9ORF174
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5492554
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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