A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226884



Internal ID22369540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:138577425..138688939hg38UCSC Ensembl
Outerchr7:138262170..138373684hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg382249
hg192249
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278565, nssv14278567, nssv14278566
SamplesHG00512, NA19238, HG00733
Known GenesSVOPL, TRIM24
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226884
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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