A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3544095



Internal ID22413139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:39088090..39088090hg38UCSC Ensembl
chr20:37716733..37716733hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg381356
hg191356
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14394407
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3544095
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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