A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271179



Internal ID22282774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:19999331..20052290hg38UCSC Ensembl
OuterchrY:22161217..22214176hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg3852960
hg1952960
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198126
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271179
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