A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3538116



Internal ID22407307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45643100..45643100hg38UCSC Ensembl
chr6:45610837..45610837hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14454299, nssv14426848, nssv14398835
SamplesNA19240, HG00733, HG00514
Known Genes
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)nsv3538116
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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