A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2271421



Internal ID17770309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:49757076..49762377hg38UCSC Ensembl
Innerchr22:50150724..50156025hg19UCSC Ensembl
Innerchr22:48536728..48542029hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg385302
hg195302
hg185302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966115
Supporting Variants
SamplesHGDP00542
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)nssv2271421
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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