A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2257459



Internal ID17733934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21159885..21202755hg38UCSC Ensembl
Innerchr22:21514174..21557044hg19UCSC Ensembl
Innerchr22:19844174..19887044hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3842871
hg1942871
hg1842871
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962762
Supporting Variants
SamplesHGDP00456
Known GenesFAM230B
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)nssv2257459
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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