A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19173



Internal ID15827744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46741479..46747450hg38UCSC Ensembl
Outerchr10:46741132..46747484hg38UCSC Ensembl
Innerchr10:46802160..46808139hg19UCSC Ensembl
Outerchr10:46802126..46808484hg19UCSC Ensembl
Innerchr10:46222166..46228145hg18UCSC Ensembl
Outerchr10:46222132..46228490hg18UCSC Ensembl
Innerchr10:46222166..46228145hg17UCSC Ensembl
Outerchr10:46222132..46228490hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg386353
hg196359
hg186359
hg176359
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA07048
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)nssv19173
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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