A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2263751



Internal ID17885432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:26420130..26423127hg38UCSC Ensembl
Innerchr22:26816096..26819093hg19UCSC Ensembl
Innerchr22:25146096..25149093hg18UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg382998
hg192998
hg182998
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979665
Supporting Variants
SamplesHGDP01307
Known Genes
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)nssv2263751
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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