A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3545919



Internal ID22414921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:79462900..79462900hg38UCSC Ensembl
chr14:79929243..79929243hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14382982
SamplesNA19240
Known GenesNRXN3
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)nsv3545919
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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