A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3288244



Internal ID22386656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:131633618..131633686hg38UCSC Ensembl
chr11:131503512..131503580hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14389962
SamplesNA19240
Known GenesNTM
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)nsv3288244
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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