A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514208



Internal ID15465900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:39584977..39586033hg38UCSC Ensembl
Innerchr4:39586597..39587653hg19UCSC Ensembl
Innerchr4:39262992..39264048hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg381057
hg191057
hg181057
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2908101, nssv2908102, nssv2908105, nssv2908103, nssv2908099, nssv2908097, nssv2908104, nssv2908100, nssv2908098, nssv2908095, nssv2908096
SamplesNA19237, NA18924, NA18862, NA12004, NA18925, NA19236, NA19142, NA19150, NA19140, NA18522, NA19214
Known GenesSMIM14, UGDH-AS1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514208
Frequency
Sample Size2366
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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