A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3555154



Internal ID22423998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:74139935..74139935hg38UCSC Ensembl
chr11:73850980..73850980hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14442660, nssv14415460
SamplesHG00733, HG00514
Known GenesC2CD3
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)nsv3555154
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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