A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271217



Internal ID22120569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:9334555..9337774hg38UCSC Ensembl
OuterchrY:9172164..9175383hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg3820460
hg1920460
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229259
Supporting Variants
SamplesHG00512
Known GenesTTTY20
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271217
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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