A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2253879



Internal ID17788132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17192081..17193779hg38UCSC Ensembl
Innerchr22:17672971..17674669hg19UCSC Ensembl
Innerchr22:16052971..16054669hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979629
Supporting Variants
SamplesHGDP00665
Known GenesCECR1
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)nssv2253879
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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