A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225960



Internal ID22368932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:123680746..123688142hg38UCSC Ensembl
Outerchr2:124438322..124445718hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg381207
hg191207
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265690, nssv14265689, nssv14265691, nssv14265688, nssv14265692, nssv14265687
SamplesHG00512, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225960
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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