A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204729



Internal ID22353535
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 Variantsnssv14405310
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204729
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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