A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271197



Internal ID22184361
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194508
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271197
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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