A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514301



Internal ID15465989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32107007..32169343hg38UCSC Ensembl
Innerchr5:32107113..32169449hg19UCSC Ensembl
Innerchr5:32142870..32205206hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3862337
hg1962337
hg1862337
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2919424, nssv2919425, nssv2919434, nssv2919426, nssv2919430, nssv2919428, nssv2919431, nssv2919429, nssv2919432, nssv2919427, nssv2919433
SamplesNA18998, NA12248, NA18959, NA21493, NA12275, NA21494, NA10836, NA18637, NA12264, NA18632, NA18562
Known GenesGOLPH3, PDZD2
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514301
Frequency
Sample Size2366
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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