A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14287457



Internal ID22271146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:57266243..57268413hg38UCSC Ensembl
chr19:57777611..57779781hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg382171
hg192171
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3542411
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14287457
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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