A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284526



Internal ID22382891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:74994741..74994901hg38UCSC Ensembl
chr14:75461444..75461604hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14404469
SamplesNA19240
Known Genes
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)nsv3284526
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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