A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19305



Internal ID15834989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:57957996..57959330hg38UCSC Ensembl
Outerchr10:57957490..57959752hg38UCSC Ensembl
Innerchr10:59717756..59719090hg19UCSC Ensembl
Outerchr10:59717250..59719512hg19UCSC Ensembl
Innerchr10:59387762..59389096hg18UCSC Ensembl
Outerchr10:59387256..59389518hg18UCSC Ensembl
Innerchr10:59387762..59389096hg17UCSC Ensembl
Outerchr10:59387256..59389518hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg382263
hg192263
hg182263
hg172263
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8677
Supporting Variants
SamplesNA18537
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)nssv19305
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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