A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207448



Internal ID22355836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:83486142..83495719hg38UCSC Ensembl
chr4:84407295..84416872hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg389578
hg199578
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14315817, nssv14315816
SamplesNA19239, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207448
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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