A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13253



Internal ID15839245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:194835344..194835897hg38UCSC Ensembl
Outerchr3:194834080..194836877hg38UCSC Ensembl
Innerchr3:194556073..194556626hg19UCSC Ensembl
Outerchr3:194554809..194557606hg19UCSC Ensembl
Innerchr3:196037362..196037915hg18UCSC Ensembl
Outerchr3:196036098..196038895hg18UCSC Ensembl
Innerchr3:196037370..196037923hg17UCSC Ensembl
Outerchr3:196036106..196038903hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg382798
hg192798
hg182798
hg172798
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10377
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)nssv13253
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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