A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2092906



Internal ID17402384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36154369..36242140hg38UCSC Ensembl
Innerchr17:34481749..34569586hg19UCSC Ensembl
Innerchr17:31505862..31593699hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3887772
hg1987838
hg1887838
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960473
Supporting Variants
SamplesHGDP00521
Known GenesCCL3L1, CCL3L3, CCL4L1, CCL4L2, TBC1D3B
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)nssv2092906
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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