A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3533151



Internal ID22402468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44390930..44390930hg38UCSC Ensembl
chr6:44358667..44358667hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14426845
SamplesHG00514
Known GenesCDC5L
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)nsv3533151
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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