A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229576



Internal ID22371382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:180609333..180681109hg38UCSC Ensembl
Outerchr5:180036333..180108109hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg382009
hg192009
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275914, nssv14275913
SamplesHG00512, HG00732
Known GenesFLT4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229576
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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