A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12533



Internal ID15492535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:134493..135165hg38UCSC Ensembl
Outerchr3:132029..136207hg38UCSC Ensembl
Innerchr3:176176..176848hg19UCSC Ensembl
Outerchr3:173712..177890hg19UCSC Ensembl
Innerchr3:151176..151848hg18UCSC Ensembl
Outerchr3:148712..152890hg18UCSC Ensembl
Innerchr3:151176..151848hg17UCSC Ensembl
Outerchr3:148712..152890hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg384179
hg194179
hg184179
hg174179
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10236
Supporting Variants
SamplesNA18972
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)nssv12533
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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