A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218402



Internal ID22363754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:111985971..111990880hg38UCSC Ensembl
OuterchrX:111229199..111234108hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg386110
hg196110
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270817, nssv14271141
SamplesHG00731, HG00733
Known GenesTRPC5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218402
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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