A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14366217



Internal ID22257711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77597135..77598053hg38UCSC Ensembl
chr13:78171270..78172188hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg38919
hg19919
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3529564
Supporting Variants
SamplesNA19238
Known GenesSCEL
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14366217
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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