A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071787



Internal ID18970514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:27821211..27859112hg38UCSC Ensembl
chr22:28217199..28255100hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3837902
hg1937902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768475
SamplesKWP1
Known GenesPITPNB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071787
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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