A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222750



Internal ID22366725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:70775730..70806327hg38UCSC Ensembl
Outerchr1:71241413..71272010hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg384462
hg194462
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271499
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222750
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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