A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216115



Internal ID22362222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:86409110..86416765hg38UCSC Ensembl
Outerchr1:86874793..86882448hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3853164
hg1953164
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273504
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216115
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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