A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228939



Internal ID22370954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:5012759..5046808hg38UCSC Ensembl
OuterchrY:4880800..4914849hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg386164
hg196164
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271216
SamplesHG00512
Known GenesPCDH11Y
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228939
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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