A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1874130



Internal ID17499366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4594212..4595460hg38UCSC Ensembl
Innerchr11:4615442..4616690hg19UCSC Ensembl
Innerchr11:4572018..4573266hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg381249
hg191249
hg181249
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971982
Supporting Variants
SamplesHGDP01029
Known GenesOR52I1
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)nssv1874130
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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