A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12683



Internal ID15839226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:16197753..16202745hg38UCSC Ensembl
Outerchr3:16196908..16203242hg38UCSC Ensembl
Innerchr3:16239260..16244252hg19UCSC Ensembl
Outerchr3:16238415..16244749hg19UCSC Ensembl
Innerchr3:16214264..16219256hg18UCSC Ensembl
Outerchr3:16213419..16219753hg18UCSC Ensembl
Innerchr3:16214264..16219256hg17UCSC Ensembl
Outerchr3:16213419..16219753hg17UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg386335
hg196335
hg186335
hg176335
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10253
Supporting Variants
SamplesNA18972
Known GenesGALNT15
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)nssv12683
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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