A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213382



Internal ID22360351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:4027489..4047782hg38UCSC Ensembl
OuterchrY:3895530..3915823hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg382131
hg192131
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271202, nssv14271204, nssv14271203
SamplesHG00512, NA19239, HG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213382
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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