A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2266433



Internal ID17767295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:37830280..37832157hg38UCSC Ensembl
Innerchr22:38226287..38228164hg19UCSC Ensembl
Innerchr22:36556233..36558110hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381878
hg191878
hg181878
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966109
Supporting Variants
SamplesHGDP00542
Known GenesANKRD54
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)nssv2266433
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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