A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv625909



Internal ID15849442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:59473323..59473756hg38UCSC Ensembl
Outerchr18:57140555..57140988hg19UCSC Ensembl
Outerchr18:55291535..55291968hg18UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38887
hg19887
hg18887
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv513499
Supporting Variants
Samples1
Known GenesCCBE1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv625909
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer