A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226928



Internal ID22365853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:138600814..138620494hg38UCSC Ensembl
Outerchr7:138285559..138305239hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381448
hg191448
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278571, nssv14278569, nssv14278572, nssv14278568
SamplesNA19239, HG00731, HG00732, NA19240
Known GenesSVOPL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226928
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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