A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2264852



Internal ID17755272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:28673652..28696074hg38UCSC Ensembl
Innerchr22:29069640..29092062hg19UCSC Ensembl
Innerchr22:27399640..27422062hg18UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3822423
hg1922423
hg1822423
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv966097
Supporting Variants
SamplesHGDP00521
Known GenesCHEK2, TTC28
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2264852
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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