A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229309



Internal ID22371199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:4346529..4362476hg38UCSC Ensembl
OuterchrY:4214570..4230517hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg3846348
hg1946348
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271215
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229309
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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