A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3286733



Internal ID22385126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:69749840..69750076hg38UCSC Ensembl
chr6:70459732..70459968hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7957n152
Supporting Variantsnssv14412366
SamplesNA19240
Known GenesLMBRD1
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)nsv3286733
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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