A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228558



Internal ID22370713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:73957217..73970533hg38UCSC Ensembl
Outerchr7:73371547..73384863hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg382093
hg192093
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279278, nssv14279272, nssv14279279, nssv14279276, nssv14279273, nssv14279277, nssv14279271, nssv14279275, nssv14279274
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228558
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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