A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211089



Internal ID22358763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:103158152..103172695hg38UCSC Ensembl
Outerchr7:102798599..102813142hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg381279
hg191279
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8690n152
Supporting Variantsnssv14277978, nssv14279531, nssv14279530, nssv14277977, nssv14279529
SamplesNA19238, NA19239, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211089
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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