A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268460



Internal ID22135834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:143634330..143673900hg38UCSC Ensembl
OuterchrX:142722146..142756978hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg3839571
hg1934833
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197682
Supporting Variants
SamplesHG00513
Known GenesSLITRK4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268460
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