A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271141



Internal ID22214276
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218402
Supporting Variants
SamplesHG00733
Known GenesTRPC5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271141
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer