A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224818



Internal ID22368136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:83857967..83888229hg38UCSC Ensembl
OuterchrX:83112975..83143237hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg381130
hg191130
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270798, nssv14270797
SamplesHG00732, HG00514
Known GenesCYLC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224818
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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