A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2806175



Internal ID15679103
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 Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514712
Supporting Variants
SamplesNA18570
Known GenesRNF219
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2806175
Frequency
Sample Size2366
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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