A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv625141



Internal ID15848677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:58001615..58004313hg38UCSC Ensembl
Outerchr18:55668847..55671545hg19UCSC Ensembl
Outerchr18:53819845..53822543hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg382699
hg192699
hg182699
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv512537
Supporting Variants
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv625141
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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