A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14368581



Internal ID22261534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:108849551..108850048hg38UCSC Ensembl
chr13:109501899..109502396hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg38498
hg19498
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221793
Supporting Variants
SamplesNA19238
Known GenesMYO16
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14368581
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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