A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2267432



Internal ID17385212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:40832245..40835911hg38UCSC Ensembl
Innerchr22:41228249..41231915hg19UCSC Ensembl
Innerchr22:39558195..39561861hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg383667
hg193667
hg183667
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979679
Supporting Variants
SamplesHGDP00456
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)nssv2267432
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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