A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514771



Internal ID15813130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:24824386..24837354hg38UCSC Ensembl
Innerchr15:25069533..25082501hg19UCSC Ensembl
Innerchr15:22620626..22633594hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3812969
hg1912969
hg1812969
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2812547, nssv2816762, nssv2814286, nssv2812089, nssv2817951
SamplesNA19249, NA19131, NA19172, NA19248, NA19173
Known GenesSNRPN
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514771
Frequency
Sample Size2366
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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