A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2261447



Internal ID17541838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:24764926..24766772hg38UCSC Ensembl
Innerchr22:25160893..25162739hg19UCSC Ensembl
Innerchr22:23490893..23492739hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg381847
hg191847
hg181847
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962778
Supporting Variants
SamplesHGDP01307
Known GenesPIWIL3, TOP1P2
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)nssv2261447
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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