A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3288712



Internal ID22387127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:36144841..36145095hg38UCSC Ensembl
chr11:36166391..36166645hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1331n152
Supporting Variantsnssv14444287, nssv14417800
SamplesHG00733, HG00514
Known GenesLDLRAD3
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)nsv3288712
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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