A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195113



Internal ID22345336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:81813579..81841478hg38UCSC Ensembl
OuterchrX:81069078..81096977hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3827900
hg1927900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10173n152
Supporting Variantsnssv14268316
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195113
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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