A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3554696



Internal ID22423552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:39089363..39089363hg38UCSC Ensembl
chr20:37718006..37718006hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg381406
hg191406
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14449459, nssv14394408, nssv14422012
SamplesNA19240, HG00733, HG00514
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)nsv3554696
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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