A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2269237



Internal ID17418955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:41459761..41460351hg38UCSC Ensembl
Innerchr22:41855765..41856355hg19UCSC Ensembl
Innerchr22:40185711..40186301hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38591
hg19591
hg18591
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962799
Supporting Variants
SamplesHGDP00542
Known GenesPHF5A
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)nssv2269237
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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