A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245596



Internal ID22376189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:25345799..25358433hg38UCSC Ensembl
Outerchr12:25498733..25511367hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38650
hg19650
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1769n152
Supporting Variantsnssv14255317
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245596
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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