A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17028375



Internal ID86616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:114481926..114481994hg38UCSC Ensembl
chr9:117244206..117244274hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5482561
Supporting Variants
Samples
Known GenesDFNB31
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17028375
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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