A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228131



Internal ID22370410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:40032923..40052797hg38UCSC Ensembl
OuterchrX:39892176..39912050hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38975
hg19975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269054, nssv14269057, nssv14269059, nssv14269055, nssv14269056, nssv14269060, nssv14269053, nssv14269058, nssv14269052
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesBCOR
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228131
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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