A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1888821



Internal ID17391948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:57712848..57726726hg38UCSC Ensembl
Innerchr11:57480320..57494198hg19UCSC Ensembl
Innerchr11:57236896..57250774hg18UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3813879
hg1913879
hg1813879
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975188
Supporting Variants
SamplesHGDP00456
Known GenesTMX2, TMX2-CTNND1
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)nssv1888821
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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