A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214647



Internal ID22361241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:194941227..194968135hg38UCSC Ensembl
Outerchr3:194661956..194688864hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38889
hg19889
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272457, nssv14272458, nssv14272454, nssv14272459, nssv14272456, nssv14272455
SamplesHG00512, NA19239, HG00731, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214647
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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