A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3553588



Internal ID22422467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:55501388..55501388hg38UCSC Ensembl
chr17:53578749..53578749hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14380870
SamplesNA19240
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)nsv3553588
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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