A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2261624



Internal ID17789326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:24249692..24271578hg38UCSC Ensembl
Innerchr22:24645660..24667546hg19UCSC Ensembl
Innerchr22:22975660..22997546hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3821887
hg1921887
hg1821887
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966093
Supporting Variants
SamplesHGDP00665
Known GenesPOM121L9P, SPECC1L, SPECC1L-ADORA2A
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)nssv2261624
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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