A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3548233



Internal ID22417192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88789734..88789734hg38UCSC Ensembl
chr14:89256078..89256078hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38333
hg19333
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14383173
SamplesNA19240
Known GenesEML5
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)nsv3548233
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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