A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1889707



Internal ID17796957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:57816708..57817391hg38UCSC Ensembl
Innerchr11:57584180..57584863hg19UCSC Ensembl
Innerchr11:57340756..57341439hg18UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38684
hg19684
hg18684
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975931
Supporting Variants
SamplesHGDP00778
Known GenesCTNND1, 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)nssv1889707
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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