A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3554557



Internal ID22423416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62349826..62349826hg38UCSC Ensembl
chr20:60924882..60924882hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14422646
SamplesHG00514
Known GenesLAMA5
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)nsv3554557
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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