A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199099



Internal ID22348731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:118317336..118330467hg38UCSC Ensembl
OuterchrX:117451299..117464430hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3813132
hg1913132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268398, nssv14268400, nssv14268405, nssv14268402, nssv14268401, nssv14268404, nssv14268399, nssv14268403, nssv14268397
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199099
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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