A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212005



Internal ID22359382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:2356548..2385587hg38UCSC Ensembl
Outerchr7:2396183..2425222hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg382286
hg192286
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277897, nssv14277894, nssv14277896, nssv14277893, nssv14277895
SamplesNA19238, HG00731, HG00733, HG00513, HG00514
Known GenesEIF3B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212005
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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