A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194521



Internal ID22344827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:83237355..83237408hg38UCSC Ensembl
chr6:83947074..83947127hg19UCSC Ensembl
Cytoband6q14.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14329448, nssv14329447, nssv14329450, nssv14329449, nssv14329445, nssv14464074, nssv14412417, nssv14329446
SamplesHG00512, NA19238, NA19239, NA19240, HG00733, HG00514
Known GenesME1
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194521
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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