A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271223



Internal ID22126287
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230343
Supporting Variants
SamplesHG00512
Known GenesRBMY1A1, RBMY1B, RBMY1D, RBMY1E
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271223
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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