A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv625133



Internal ID15848669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:43449573..43452766hg38UCSC Ensembl
Outerchr18:41029538..41032731hg19UCSC Ensembl
Outerchr18:39283536..39286729hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg383194
hg193194
hg183194
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv512529
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)nssv625133
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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