A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229292



Internal ID22371186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:863706..944895hg38UCSC Ensembl
Outerchr7:903343..984531hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3813238
hg1913238
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8331n152
Supporting Variantsnssv14277853, nssv14277852, nssv14277855, nssv14277856, nssv14277850, nssv14277851, nssv14277854
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known GenesADAP1, GET4, SUN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229292
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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