A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194508



Internal ID22344814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:13548774..13584991hg38UCSC Ensembl
OuterchrY:15660654..15696871hg19UCSC Ensembl
CytobandYq11.221
Allele length
AssemblyAllele length
hg3836218
hg1936218
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271197
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194508
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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