A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1803407



Internal ID17781270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:159918291..159920328hg38UCSC Ensembl
Innerchr1:159888081..159890118hg19UCSC Ensembl
Innerchr1:158154705..158156742hg18UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg382038
hg192038
hg182038
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946451
Supporting Variants
SamplesHGDP00665
Known GenesTAGLN2
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)nssv1803407
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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