A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15449



Internal ID15843456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13447678..13450174hg38UCSC Ensembl
Outerchr1:13445787..13450628hg38UCSC Ensembl
Innerchr1:13774145..13776641hg19UCSC Ensembl
Outerchr1:13772254..13777095hg19UCSC Ensembl
Innerchr1:13646732..13649228hg18UCSC Ensembl
Outerchr1:13644841..13649682hg18UCSC Ensembl
Innerchr1:13519451..13521947hg17UCSC Ensembl
Outerchr1:13517560..13522401hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg384842
hg194842
hg184842
hg174842
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9102
Supporting Variants
SamplesNA19173
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)nssv15449
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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