A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219230



Internal ID22364316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:75127461..75127521hg38UCSC Ensembl
chr11:74838506..74838566hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1469n152
Supporting Variantsnssv14377985
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219230
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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