A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217676



Internal ID22363254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:145396186..145407875hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg386389
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270794, nssv14270793
SamplesHG00512, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217676
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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