A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3545333



Internal ID22414348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:76793391..76793391hg38UCSC Ensembl
chr14:77259734..77259734hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14376201, nssv14444505
SamplesNA19240, HG00733
Known GenesANGEL1
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)nsv3545333
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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