A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191240



Internal ID22341969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:105347538..105469302hg38UCSC Ensembl
OuterchrX:104592218..104713294hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38121765
hg19121077
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269239, nssv14269240
SamplesNA19239, HG00732
Known GenesIL1RAPL2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191240
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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