A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211311



Internal ID22358909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177584024..177595173hg38UCSC Ensembl
Outerchr5:177011025..177022174hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38652
hg19652
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7648n152
Supporting Variantsnssv14276303
SamplesHG00731
Known GenesTMED9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211311
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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