A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12368



Internal ID15830670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130111422..130111908hg38UCSC Ensembl
Outerchr3:130110988..130112748hg38UCSC Ensembl
Innerchr3:129830265..129830751hg19UCSC Ensembl
Outerchr3:129829831..129831591hg19UCSC Ensembl
Innerchr3:131312955..131313441hg18UCSC Ensembl
Outerchr3:131312521..131314281hg18UCSC Ensembl
Innerchr3:131312963..131313449hg17UCSC Ensembl
Outerchr3:131312529..131314289hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg381761
hg191761
hg181761
hg171761
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10324
Supporting Variants
SamplesNA12155
Known GenesFAM86HP
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)nssv12368
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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