A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2268748



Internal ID17425789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:39312465..39314909hg38UCSC Ensembl
Innerchr22:39708470..39710914hg19UCSC Ensembl
Innerchr22:38038416..38040860hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg382445
hg192445
hg182445
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966110
Supporting Variants
SamplesHGDP00542
Known GenesRPL3, SNORD83B
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)nssv2268748
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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