A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243388



Internal ID22375560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:112961615..112982235hg38UCSC Ensembl
Outerchr13:113615929..113636549hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381238
hg191238
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258298, nssv14258300, nssv14258295, nssv14258296, nssv14258299, nssv14258293, nssv14258292, nssv14258294, nssv14258297
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMCF2L, MCF2L-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243388
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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