A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196406



Internal ID22346419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:92328399..92396149hg38UCSC Ensembl
OuterchrX:91583398..91651148hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg3867751
hg1967751
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270695
SamplesNA19239
Known GenesPCDH11X
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196406
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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