A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271163



Internal ID22269649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:6679977..6727439hg38UCSC Ensembl
OuterchrY:6548018..6595480hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg3847463
hg1947463
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207954
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271163
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