A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2229948



Internal ID17848834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:17515670..17518510hg38UCSC Ensembl
Innerchr20:17496315..17499155hg19UCSC Ensembl
Innerchr20:17444315..17447155hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg382841
hg192841
hg182841
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964378
Supporting Variants
SamplesHGDP01029
Known GenesBFSP1
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)nssv2229948
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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