A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1959583



Internal ID17481459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:35802103..35803015hg38UCSC Ensembl
Innerchr13:36376240..36377152hg19UCSC Ensembl
Innerchr13:35274240..35275152hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38913
hg19913
hg18913
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976103
Supporting Variants
SamplesHGDP00998
Known GenesDCLK1, MIR548F5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1959583
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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