A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2689749



Internal ID17461334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:35882897..35887028hg38UCSC Ensembl
Innerchr22:36278944..36283075hg19UCSC Ensembl
Innerchr22:34608890..34613021hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg384132
hg194132
hg184132
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsnsv966106
Supporting Variants
SamplesHGDP00778
Known GenesRBFOX2
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2689749
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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