A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1876148



Internal ID17391414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:10507492..10510133hg38UCSC Ensembl
Innerchr11:10529039..10531680hg19UCSC Ensembl
Innerchr11:10485615..10488256hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg382642
hg192642
hg182642
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975881
Supporting Variants
SamplesHGDP00456
Known GenesAMPD3, MIR4485, MTRNR2L8
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)nssv1876148
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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