A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3288183



Internal ID22386594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:59975060..59975123hg38UCSC Ensembl
chr14:60441778..60441841hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14405619
SamplesNA19240
Known GenesLRRC9
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)nsv3288183
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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