A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3288477



Internal ID22386889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:72209397..72209447hg38UCSC Ensembl
chr15:72501738..72501788hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2984n152
Supporting Variantsnssv14405351
SamplesNA19240
Known GenesPKM
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3288477
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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