A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2270319



Internal ID17730234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:41707990..41714417hg38UCSC Ensembl
Innerchr22:42103994..42110421hg19UCSC Ensembl
Innerchr22:40433940..40440367hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg386428
hg196428
hg186428
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979682
Supporting Variants
SamplesHGDP00456
Known GenesMEI1
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)nssv2270319
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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