A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271180



Internal ID22282768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:21062117..21065661hg38UCSC Ensembl
OuterchrY:23224003..23227547hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg383545
hg193545
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191154
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271180
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