A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195483



Internal ID22345660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:79317508..79317598hg38UCSC Ensembl
chr1:79783193..79783283hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv288n152
Supporting Variantsnssv14374565, nssv14387637, nssv14372842
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195483
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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