A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14369452



Internal ID22253929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:111855851..111859150hg38UCSC Ensembl
chr13:112510165..112513464hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg383300
hg193300
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219589
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14369452
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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