A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14403206



Internal ID22302438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:50057674..50057674hg38UCSC Ensembl
chrX:49822331..49822331hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg382558
hg192558
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3533627
Supporting Variants
SamplesNA19240
Known GenesCLCN5
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)nssv14403206
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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