A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269844



Internal ID22136240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:106505000..106638495hg38UCSC Ensembl
OuterchrX:105748230..105881725hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38133496
hg19133496
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199951
Supporting Variants
SamplesHG00513
Known GenesCXorf57
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269844
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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