A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271192



Internal ID22127335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:20420483..20447881hg38UCSC Ensembl
OuterchrY:22582369..22609767hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg3827399
hg1927399
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195361
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271192
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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