A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514482



Internal ID15466168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18994164..19000514hg38UCSC Ensembl
Innerchr8:18851674..18858024hg19UCSC Ensembl
Innerchr8:18895954..18902304hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg386351
hg196351
hg186351
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2956346, nssv2956347, nssv2956343, nssv2956348, nssv2956345, nssv2956344, nssv2956349
SamplesNA19222, NA21600, NA21362, NA10863, NA12234, NA19221, NA21580
Known GenesPSD3
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514482
Frequency
Sample Size2366
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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