A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219645



Internal ID22364600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:241961196..241993293hg38UCSC Ensembl
Outerchr1:242124498..242156595hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg382103
hg192103
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272581
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219645
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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