A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2262720



Internal ID17861728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:24294204..24299584hg38UCSC Ensembl
Innerchr22:24690172..24695552hg19UCSC Ensembl
Innerchr22:23020172..23025552hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg385381
hg195381
hg185381
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964610
Supporting Variants
SamplesHGDP01284
Known GenesSPECC1L, SPECC1L-ADORA2A
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)nssv2262720
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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