A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230343



Internal ID22371898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:21512938..21525352hg38UCSC Ensembl
OuterchrY:23674824..23687238hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg3845951
hg1945951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271223
SamplesHG00512
Known GenesRBMY1A1, RBMY1B, RBMY1D, RBMY1E
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230343
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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