A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1893478



Internal ID17797081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:64186967..64188771hg38UCSC Ensembl
Innerchr11:63954439..63956243hg19UCSC Ensembl
Innerchr11:63711015..63712819hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg381805
hg191805
hg181805
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972037
Supporting Variants
SamplesHGDP00778
Known GenesSTIP1
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)nssv1893478
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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