A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245210



Internal ID22376085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:6946318..6964193hg38UCSC Ensembl
Outerchr12:7055481..7073356hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382431
hg192431
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255267, nssv14255266, nssv14255265, nssv14255263, nssv14256216, nssv14256215, nssv14255268, nssv14255264, nssv14256217
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMIR141, MIR200C, PTPN6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245210
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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