A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14348386



Internal ID22190594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:110770229..110770557hg38UCSC Ensembl
chr9:113532509..113532837hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212854
Supporting Variants
SamplesHG00731
Known GenesMUSK
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14348386
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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