A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247027



Internal ID22376591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:102691581..102699087hg38UCSC Ensembl
Outerchr13:103343931..103351437hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg382227
hg192227
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257735, nssv14257729, nssv14257731, nssv14257734, nssv14257737, nssv14257730, nssv14257736, nssv14257732, nssv14257733
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMETTL21C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247027
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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