A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118299



Internal ID18923164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:103334463..103334963hg38UCSC Ensembl
Outerchr14:103800800..103801300hg19UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980976
SamplesKWS1
Known GenesEIF5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118299
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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