A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544910



Internal ID319007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:114466824..114466853hg38UCSC Ensembl
chr9:117229104..117229133hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17028373
Samples
Known GenesDFNB31
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544910
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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