A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514260



Internal ID15465950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:155673238..155676646hg38UCSC Ensembl
Innerchr4:156594390..156597798hg19UCSC Ensembl
Innerchr4:156813840..156817248hg18UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg383409
hg193409
hg183409
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2903350, nssv2903359, nssv2903362, nssv2903365, nssv2903352, nssv2903349, nssv2903363, nssv2903367, nssv2903357, nssv2903358, nssv2903361, nssv2903356, nssv2903369, nssv2903354, nssv2903364, nssv2903360, nssv2903353, nssv2903351, nssv2903366, nssv2903368, nssv2903355
SamplesNA19248, NA19192, NA18966, NA18511, NA19150, NA19236, NA19151, NA19147, NA19161, NA19148, NA19239, NA19181, NA18522, NA18925, NA18910, NA19235, NA19138, NA19160, NA18499, NA18924, NA19249
Known GenesGUCY1A3
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514260
Frequency
Sample Size2366
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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