A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271184



Internal ID22282758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:24777930..24897071hg38UCSC Ensembl
OuterchrY:26924077..27043218hg19UCSC Ensembl
CytobandYq11.23
Allele length
AssemblyAllele length
hg38119142
hg19119142
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198098
Supporting Variants
SamplesNA19239
Known GenesDAZ2, DAZ3, DAZ4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271184
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