A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072880



Internal ID18978177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:33301693..33302694hg38UCSC Ensembl
chr19:33792599..33793600hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg381002
hg191002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3766006
SamplesKWP1
Known GenesCEBPA
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072880
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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