A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199951



Internal ID22349469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:106505000..106638495hg38UCSC Ensembl
OuterchrX:105748230..105881725hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38133496
hg19133496
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269844
SamplesHG00513
Known GenesCXorf57
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199951
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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