A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1879470



Internal ID17814168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:23479217..23480441hg38UCSC Ensembl
Innerchr11:23500763..23501987hg19UCSC Ensembl
Innerchr11:23457339..23458563hg18UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg381225
hg191225
hg181225
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975893
Supporting Variants
SamplesHGDP00927
Known Genes
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)nssv1879470
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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