A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2097390



Internal ID17452027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:42610194..42612043hg38UCSC Ensembl
Innerchr17:40762212..40764061hg19UCSC Ensembl
Innerchr17:38015738..38017587hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg381850
hg191850
hg181850
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960107
Supporting Variants
SamplesHGDP00778
Known GenesTUBG1
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)nssv2097390
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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