A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2269964



Internal ID17729478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:43644946..43646182hg38UCSC Ensembl
Innerchr22:44040826..44042062hg19UCSC Ensembl
Innerchr22:42372159..42373395hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381237
hg191237
hg181237
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962803
Supporting Variants
SamplesHGDP00456
Known GenesEFCAB6
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)nssv2269964
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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