A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14454598



Internal ID22249165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:46384764..46384764hg38UCSC Ensembl
chrX:46244199..46244199hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3535968
Supporting Variants
SamplesHG00733
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)nssv14454598
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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