A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216658



Internal ID22362584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99319165..99320423hg38UCSC Ensembl
chr13:99971419..99972677hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg381259
hg191259
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14369713, nssv14369711, nssv14369710, nssv14369712, nssv14369716, nssv14369708, nssv14369714, nssv14369709, nssv14369715
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMIR548AN, UBAC2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216658
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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