A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077418



Internal ID18974001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25584532..25586633hg38UCSC Ensembl
chr22:25980499..25982600hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg382102
hg192102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3772297
SamplesKWP1
Known GenesADRBK2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077418
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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