A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3543619



Internal ID22412672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:29063428..29063428hg38UCSC Ensembl
chr15:29355631..29355631hg19UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14380074
SamplesNA19240
Known GenesAPBA2
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)nsv3543619
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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