A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1076401



Internal ID19325536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:18223822..18284323hg38UCSC Ensembl
chr14:19000299..19060800hg19UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg3860502
hg1960502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3766835
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1076401
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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