A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10399



Internal ID15498676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:197517083..197519713hg38UCSC Ensembl
Outerchr3:197243954..197246584hg19UCSC Ensembl
Outerchr3:198728351..198730981hg18UCSC Ensembl
Outerchr3:198732264..198734894hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg382631
hg192631
hg182631
hg172631
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11964
SamplesNA18975
Known GenesBDH1
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)nsv10399
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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