A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3555165



Internal ID22424008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63920117..63920117hg38UCSC Ensembl
chr20:62551470..62551470hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14395118
SamplesNA19240
Known GenesDNAJC5
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)nsv3555165
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer