A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199338



Internal ID22348935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:68325584..68327803hg38UCSC Ensembl
chrX:67545426..67547645hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg382220
hg192220
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10144n152
Supporting Variantsnssv14382011
SamplesNA19240
Known GenesOPHN1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199338
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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