A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198126



Internal ID22347897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:19999331..20052290hg38UCSC Ensembl
OuterchrY:22161217..22214176hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg3852960
hg1952960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271179
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198126
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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