A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212045



Internal ID22359412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:28335803..28420381hg38UCSC Ensembl
Outerchr1:28662314..28746892hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg386502
hg196502
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271087
SamplesHG00512
Known GenesMED18, PHACTR4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212045
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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