A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3533023



Internal ID22402341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:24927042..24927042hg38UCSC Ensembl
chr6:24927270..24927270hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14425803
SamplesHG00514
Known GenesFAM65B
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)nsv3533023
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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