A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269846



Internal ID22136244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:128674472..128695851hg38UCSC Ensembl
OuterchrX:127808450..127829829hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg3821380
hg1921380
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196565
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269846
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