A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228684



Internal ID22370789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:78755627..78772955hg38UCSC Ensembl
Outerchr2:78982753..79000081hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg385328
hg195328
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267424, nssv14267423
SamplesHG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228684
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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