A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227681



Internal ID22370098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2809132..2827609hg38UCSC Ensembl
Outerchr1:2725697..2744174hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38774
hg19774
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267854
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227681
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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