A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193542



Internal ID22343977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:36365538..36417684hg38UCSC Ensembl
OuterchrX:36383653..36435797hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg3852147
hg1952145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268838
SamplesNA19238
Known GenesCXorf30
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193542
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer