A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3549137



Internal ID22418085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2127286..2127286hg38UCSC Ensembl
chr11:2148516..2148516hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14383079, nssv14442588, nssv14414757
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)nsv3549137
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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