A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3547104



Internal ID22416082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63450554..63450554hg38UCSC Ensembl
chr20:62081907..62081907hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38529
hg19529
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14422501
SamplesHG00514
Known GenesKCNQ2
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)nsv3547104
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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