A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1073189



Internal ID19316203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50015270..50016171hg38UCSC Ensembl
chr22:50453699..50454600hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38902
hg19902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762173
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1073189
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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