A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225693



Internal ID22368750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:65044361..65073528hg38UCSC Ensembl
Outerchr5:64340188..64369355hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3828730
hg1928730
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275869
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225693
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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