A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196015



Internal ID22346104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:79317772..79318057hg38UCSC Ensembl
chr1:79783457..79783742hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38286
hg19286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv289n152
Supporting Variantsnssv14383319, nssv14372974, nssv14391839
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196015
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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