A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270687



Internal ID22275891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:82134347..82184072hg38UCSC Ensembl
OuterchrX:81389796..81439521hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3849726
hg1949726
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191880
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270687
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