A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv625902



Internal ID15502749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:37283757..37284253hg38UCSC Ensembl
Outerchr18:34863720..34864216hg19UCSC Ensembl
Outerchr18:33117718..33118214hg18UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38857
hg19857
hg18857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv513493
Supporting Variants
Samples1
Known GenesCELF4
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv625902
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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