A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209206



Internal ID22357319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:116112489..116159362hg38UCSC Ensembl
OuterchrX:115243742..115290615hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3846874
hg1946874
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269845
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209206
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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