A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1073169



Internal ID18971895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46150396..46150697hg38UCSC Ensembl
chr22:46546299..46546600hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3767962
SamplesKWP1
Known GenesPPARA
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1073169
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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