A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1070213



Internal ID18979688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:33930300..33936238hg38UCSC Ensembl
chr14:34399506..34405444hg19UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg385939
hg195939
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770789
SamplesKWP1
Known GenesEGLN3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1070213
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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