A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2268325



Internal ID17821118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:40840452..40844881hg38UCSC Ensembl
Innerchr22:41236456..41240885hg19UCSC Ensembl
Innerchr22:39566402..39570831hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg384430
hg194430
hg184430
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979680
Supporting Variants
SamplesHGDP00927
Known GenesST13
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)nssv2268325
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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