A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12136



Internal ID15835633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:131723130..131765849hg38UCSC Ensembl
Outerchr4:131720719..131766441hg38UCSC Ensembl
Innerchr4:132644285..132687004hg19UCSC Ensembl
Outerchr4:132641874..132687596hg19UCSC Ensembl
Innerchr4:132863735..132906454hg18UCSC Ensembl
Outerchr4:132861324..132907046hg18UCSC Ensembl
Innerchr4:133001890..133044609hg17UCSC Ensembl
Outerchr4:132999479..133045201hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3845723
hg1945723
hg1845723
hg1745723
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10568
Supporting Variants
SamplesNA18552
Known Genes
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)nssv12136
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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