A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2261129



Internal ID17491295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23940426..23971403hg38UCSC Ensembl
Innerchr22:24282613..24313592hg19UCSC Ensembl
Innerchr22:22612613..22643592hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3830978
hg1930980
hg1830980
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964607
Supporting Variants
SamplesHGDP00998
Known GenesDDT, DDTL, GSTT2, GSTT2B
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)nssv2261129
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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