A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512622



Internal ID15852047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:61099686..61102770hg38UCSC Ensembl
Outerchr20:59674742..59677826hg19UCSC Ensembl
Outerchr20:59108137..59111221hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg383085
hg193085
hg183085
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625236
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)nsv512622
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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