A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514712



Internal ID15813071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:78629216..78633440hg38UCSC Ensembl
Innerchr13:79203351..79207575hg19UCSC Ensembl
Innerchr13:78101352..78105576hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg384225
hg194225
hg184225
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2806933, nssv2806175, nssv2806149, nssv2805054, nssv2799578, nssv2800868
SamplesNA18947, NA18592, NA18545, NA18948, NA18570, NA18608
Known GenesRNF219
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514712
Frequency
Sample Size2366
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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