A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213959



Internal ID22360745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:71161944..71162002hg38UCSC Ensembl
chr17:69158085..69158143hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3626n152
Supporting Variantsnssv14407118
SamplesNA19240
Known GenesCASC17
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213959
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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