A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3287146



Internal ID22385547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:65249079..65249134hg38UCSC Ensembl
chr11:65016550..65016605hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14377257, nssv14417255
SamplesNA19240, 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)nsv3287146
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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