A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10270



Internal ID15845233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:47781116..47804088hg38UCSC Ensembl
Outerchr3:47822606..47845578hg19UCSC Ensembl
Outerchr3:47797610..47820582hg18UCSC Ensembl
Outerchr3:47797610..47820582hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3822973
hg1922973
hg1822973
hg1722973
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv29166, nssv11991, nssv28853, nssv12074, nssv11538, nssv28390, nssv28799, nssv12660
SamplesNA07029, NA18860, NA19007, NA12872, NA19221, NA18517, NA18564, NA12740
Known GenesDHX30, SMARCC1
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv10270
Frequency
Sample Size31
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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