A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210423



Internal ID22358331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:138049210..138053458hg38UCSC Ensembl
Outerchr3:137768052..137772300hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg382287
hg192287
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271552, nssv14271553
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210423
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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