A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14389681



Internal ID22297285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:120977130..120986849hg38UCSC Ensembl
chrX:120110984..120120703hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg389720
hg199720
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3171130
Supporting Variants
SamplesNA19240
Known GenesCT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A8, CT47A9
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14389681
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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