A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530887



Internal ID22400255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69377529..69377529hg38UCSC Ensembl
chr5:68673356..68673356hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14399049
SamplesNA19240
Known GenesRAD17
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)nsv3530887
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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