A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21519



Internal ID15831068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:57549725..57550898hg38UCSC Ensembl
Outerchr12:57549213..57551460hg38UCSC Ensembl
Innerchr12:57943508..57944681hg19UCSC Ensembl
Outerchr12:57942996..57945243hg19UCSC Ensembl
Innerchr12:56229775..56230948hg18UCSC Ensembl
Outerchr12:56229263..56231510hg18UCSC Ensembl
Innerchr12:56229775..56230948hg17UCSC Ensembl
Outerchr12:56229263..56231510hg17UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg382248
hg192248
hg182248
hg172248
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8975
Supporting Variants
SamplesNA12740
Known GenesKIF5A
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)nssv21519
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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