A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204556



Internal ID22353390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:79609301..79694140hg38UCSC Ensembl
OuterchrX:78864798..78949637hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3884840
hg1984840
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268914, nssv14268912, nssv14268913, nssv14268313, nssv14268314
SamplesHG00512, NA19238, HG00732, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204556
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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