A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3552385



Internal ID22421280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62160392..62160392hg38UCSC Ensembl
chr20:60735448..60735448hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14395558
SamplesNA19240
Known GenesSS18L1
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)nsv3552385
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