A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271177



Internal ID22123121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:16260764..16324552hg38UCSC Ensembl
OuterchrY:18372644..18436432hg19UCSC Ensembl
CytobandYq11.221
Allele length
AssemblyAllele length
hg3863789
hg1963789
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193328
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271177
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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