A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6240164



Internal ID22044774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:114456151..114456151hg38UCSC Ensembl
chr9:117218431..117218431hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17841343
Samples
Known GenesDFNB31
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6240164
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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