A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191228



Internal ID22341959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:107152051..107152151hg38UCSC Ensembl
chrX:106395281..106395381hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10230n152
Supporting Variantsnssv14382052
SamplesNA19240
Known GenesNUP62CL
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191228
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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