A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199384



Internal ID22348972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:42651738..42673240hg38UCSC Ensembl
OuterchrX:42510990..42532491hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg3821503
hg1921502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268858, nssv14268856, nssv14268859, nssv14268855, nssv14268857
SamplesHG00512, NA19238, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199384
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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