A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14403980



Internal ID22301838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:65450699..65450699hg38UCSC Ensembl
chrX:64670579..64670579hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3534743
Supporting Variants
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)nssv14403980
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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