A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2253975



Internal ID17508006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17704456..17705826hg38UCSC Ensembl
Innerchr22:18187222..18188592hg19UCSC Ensembl
Innerchr22:16567222..16568592hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381371
hg191371
hg181371
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964581
Supporting Variants
SamplesHGDP01029
Known GenesBCL2L13
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)nssv2253975
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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