A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2269138



Internal ID17859770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:41433542..41435164hg38UCSC Ensembl
Innerchr22:41829546..41831168hg19UCSC Ensembl
Innerchr22:40159492..40161114hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381623
hg191623
hg181623
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962798
Supporting Variants
SamplesHGDP01284
Known GenesTOB2
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)nssv2269138
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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