A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190403



Internal ID22341274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:3691430..3691485hg38UCSC Ensembl
chrX:3609471..3609526hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10005n152
Supporting Variantsnssv14413340
SamplesHG00514
Known GenesPRKX
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190403
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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