A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28509



Internal ID15831649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:193059659..193064560hg38UCSC Ensembl
Outerchr3:193041618..193067708hg38UCSC Ensembl
Innerchr3:192777448..192782349hg19UCSC Ensembl
Outerchr3:192759407..192785497hg19UCSC Ensembl
Innerchr3:194260142..194265043hg18UCSC Ensembl
Outerchr3:194242101..194268191hg18UCSC Ensembl
Innerchr3:194260150..194265051hg17UCSC Ensembl
Outerchr3:194242109..194268199hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3826091
hg1926091
hg1826091
hg1726091
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10374
Supporting Variants
SamplesNA12802
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)nssv28509
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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