A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130912



Internal ID19254938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:33930300..33936238hg38UCSC Ensembl
Outerchr14:34399506..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 Variantsnssv3967612, nssv3994220
SamplesKWS2, KWS1
Known GenesEGLN3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130912
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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