A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19203



Internal ID15827697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46707534..46707713hg38UCSC Ensembl
Outerchr10:46707254..46708002hg38UCSC Ensembl
Innerchr10:46841904..46842083hg19UCSC Ensembl
Outerchr10:46841615..46842363hg19UCSC Ensembl
Innerchr10:46261910..46262089hg18UCSC Ensembl
Outerchr10:46261621..46262369hg18UCSC Ensembl
Innerchr10:46261910..46262089hg17UCSC Ensembl
Outerchr10:46261621..46262369hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38749
hg19749
hg18749
hg17749
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)nssv19203
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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