A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218882



Internal ID22364089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:149067071..149081351hg38UCSC Ensembl
Outerchr1:148331669..148345974hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg386480
hg196480
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272236
SamplesHG00512
Known GenesLOC101929780, NBPF14, NBPF8, NBPF9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218882
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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