A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193328



Internal ID22343786
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271177, nssv14271178
SamplesHG00512, NA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193328
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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