A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14403257



Internal ID22303065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:120877843..120877843hg38UCSC Ensembl
chrX:120011697..120011697hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3858052
hg1958052
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3539815
Supporting Variants
SamplesNA19240
Known GenesCT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A8, CT47A9
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14403257
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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