A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3288698



Internal ID22387113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:54337356..54337456hg38UCSC Ensembl
chr17:52414717..52414817hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3596n152
Supporting Variantsnssv14431321
SamplesHG00514
Known Genes
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)nsv3288698
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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