A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17026188



Internal ID85195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:110675176..110676740hg38UCSC Ensembl
chr9:113437456..113439020hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg381565
hg191565
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5480028
Supporting Variants
Samples
Known GenesMUSK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17026188
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002029


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