A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3550764



Internal ID22419686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:32154880..32154880hg38UCSC Ensembl
chr15:32447081..32447081hg19UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38189
hg19189
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14445680, nssv14382966, nssv14418081
SamplesNA19240, HG00733, HG00514
Known GenesCHRNA7
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)nsv3550764
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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