A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560217



Internal ID22429013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53290716..53290716hg38UCSC Ensembl
chr12:53684500..53684500hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14363458, nssv14363454, nssv14363459, nssv14363455, nssv14363457, nssv14363460, nssv14363453, nssv14363456, nssv14363452
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesESPL1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3560217
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer