A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2269072



Internal ID17831367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:45184345..45187845hg38UCSC Ensembl
Innerchr22:45580226..45583726hg19UCSC Ensembl
Innerchr22:43958890..43962390hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg383501
hg193501
hg183501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964640
Supporting Variants
SamplesHGDP00998
Known GenesNUP50
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)nssv2269072
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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