A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3553891



Internal ID22422762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:55501248..55501248hg38UCSC Ensembl
chr17:53578609..53578609hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14383023
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)nsv3553891
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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