A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18916



Internal ID15835345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:50658126..50687638hg38UCSC Ensembl
Outerchr10:50656902..50691300hg38UCSC Ensembl
Innerchr10:52417886..52447398hg19UCSC Ensembl
Outerchr10:52416662..52451060hg19UCSC Ensembl
Innerchr10:52087892..52117404hg18UCSC Ensembl
Outerchr10:52086668..52121066hg18UCSC Ensembl
Innerchr10:52087892..52117404hg17UCSC Ensembl
Outerchr10:52086668..52121066hg17UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3834399
hg1934399
hg1834399
hg1734399
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8662
Supporting Variants
SamplesNA18552
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)nssv18916
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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