A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2265509



Internal ID17381176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:31056995..31069154hg38UCSC Ensembl
Innerchr22:31452981..31465140hg19UCSC Ensembl
Innerchr22:29782981..29795140hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3812160
hg1912160
hg1812160
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv964620
Supporting Variants
SamplesHGDP00456
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2265509
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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