A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14368542



Internal ID22308313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:53023602..53024872hg38UCSC Ensembl
chr13:53597737..53599007hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg381271
hg191271
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229915
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14368542
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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