A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271222



Internal ID22127049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:18637337..18683057hg38UCSC Ensembl
OuterchrY:20799223..20844943hg19UCSC Ensembl
CytobandYq11.222
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220335
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271222
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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