A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3553205



Internal ID22422092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:66629217..66629217hg38UCSC Ensembl
chr14:67095935..67095935hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14389092
SamplesNA19240
Known GenesGPHN
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)nsv3553205
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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