A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283347



Internal ID22381690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:35976682..35976935hg38UCSC Ensembl
chr14:36445888..36446141hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14405561
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)nsv3283347
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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