A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23824



Internal ID15832640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:39908762..39921117hg38UCSC Ensembl
Outerchr12:39907631..39922498hg38UCSC Ensembl
Innerchr12:40302564..40314919hg19UCSC Ensembl
Outerchr12:40301433..40316300hg19UCSC Ensembl
Innerchr12:38588831..38601186hg18UCSC Ensembl
Outerchr12:38587700..38602567hg18UCSC Ensembl
Innerchr12:38588831..38601186hg17UCSC Ensembl
Outerchr12:38587700..38602567hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3814868
hg1914868
hg1814868
hg1714868
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8966
Supporting Variants
SamplesNA18502
Known GenesSLC2A13
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)nssv23824
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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