A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270686



Internal ID22300297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:73933825..73951346hg38UCSC Ensembl
OuterchrX:73153660..73171181hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg3817522
hg1917522
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205159
Supporting Variants
SamplesNA19240
Known GenesJPX
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270686
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