A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271205



Internal ID22282719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:6357637..6368900hg38UCSC Ensembl
OuterchrY:6225678..6236941hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg389806
hg199806
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220834
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271205
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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