A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23068



Internal ID15485854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:207525381..207563415hg38UCSC Ensembl
Outerchr1:207524128..207563451hg38UCSC Ensembl
Innerchr1:207698726..207736760hg19UCSC Ensembl
Outerchr1:207697473..207736796hg19UCSC Ensembl
Innerchr1:205765349..205803383hg18UCSC Ensembl
Outerchr1:205764096..205803419hg18UCSC Ensembl
Innerchr1:204087121..204125155hg17UCSC Ensembl
Outerchr1:204085868..204125191hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3839324
hg1939324
hg1839324
hg1739324
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8724
Supporting Variants
SamplesNA18502
Known GenesCR1
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)nssv23068
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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