A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226226



Internal ID22369099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:180379041..180400603hg38UCSC Ensembl
Outerchr4:181300194..181321756hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg381143
hg191143
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274006, nssv14274007
SamplesHG00512, HG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226226
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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