A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271171



Internal ID22116367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:9044192..9149320hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38105129
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190657
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271171
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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