A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228174



Internal ID22370443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:94993270..95010409hg38UCSC Ensembl
Outerchr3:94712114..94729253hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg384073
hg194073
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272215
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228174
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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