A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211799



Internal ID22359241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:1236017..1269924hg38UCSC Ensembl
Outerchr7:1275653..1309560hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38903
hg19903
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8348n152
Supporting Variantsnssv14280059, nssv14280060
SamplesHG00731, HG00733
Known GenesUNCX
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211799
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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