A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1073191



Internal ID19324905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50474570..50474971hg38UCSC Ensembl
chr22:50912999..50913400hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38402
hg19402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768564
SamplesKWP1
Known GenesSBF1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1073191
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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