A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5596058



Internal ID21544665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:110714891..110717824hg38UCSC Ensembl
chr9:113477171..113480104hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg382934
hg192934
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17143555
SamplesNA19238
Known GenesMUSK
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5596058
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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