A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557493



Internal ID22426299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109661406..109661936hg38UCSC Ensembl
chr12:110099211..110099741hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38531
hg19531
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14366329, nssv14366332, nssv14366328, nssv14366335, nssv14366327, nssv14366330, nssv14366331, nssv14366334, nssv14366333
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3557493
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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