A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1872085



Internal ID17829263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:3971628..3974626hg38UCSC Ensembl
Innerchr11:3992858..3995856hg19UCSC Ensembl
Innerchr11:3949434..3952432hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg382999
hg192999
hg182999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971973
Supporting Variants
SamplesHGDP00998
Known GenesSTIM1
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)nssv1872085
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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