A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2112659



Internal ID17751880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:99679..113640hg38UCSC Ensembl
Innerchr18:99679..113640hg19UCSC Ensembl
Innerchr18:89679..103640hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg3813962
hg1913962
hg1813962
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978591
Supporting Variants
SamplesHGDP00521
Known GenesMIR8078, ROCK1P1
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)nssv2112659
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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