A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12256



Internal ID15488933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143837094..143902359hg38UCSC Ensembl
Outerchr4:143836418..143902790hg38UCSC Ensembl
Innerchr4:144758247..144823512hg19UCSC Ensembl
Outerchr4:144757571..144823943hg19UCSC Ensembl
Innerchr4:144977697..145042962hg18UCSC Ensembl
Outerchr4:144977021..145043393hg18UCSC Ensembl
Innerchr4:145115852..145181117hg17UCSC Ensembl
Outerchr4:145115176..145181548hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3866373
hg1966373
hg1866373
hg1766373
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10584
Supporting Variants
SamplesNA18552
Known GenesGYPE
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)nssv12256
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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