A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218756



Internal ID22364001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170392439..170418657hg38UCSC Ensembl
Outerchr6:170701527..170727745hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg385959
hg195959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278992, nssv14278991
SamplesNA19239, HG00731
Known GenesFAM120B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218756
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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