A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207954



Internal ID22356271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:6679977..6727439hg38UCSC Ensembl
OuterchrY:6548018..6595480hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg3847463
hg1947463
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271163
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207954
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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