A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24292



Internal ID15491847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:207525381..207574337hg38UCSC Ensembl
Outerchr1:207524128..207575856hg38UCSC Ensembl
Innerchr1:207698726..207747682hg19UCSC Ensembl
Outerchr1:207697473..207749201hg19UCSC Ensembl
Innerchr1:205765349..205814305hg18UCSC Ensembl
Outerchr1:205764096..205815824hg18UCSC Ensembl
Innerchr1:204087121..204136077hg17UCSC Ensembl
Outerchr1:204085868..204137596hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3851729
hg1951729
hg1851729
hg1751729
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8724
Supporting Variants
SamplesNA18860
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)nssv24292
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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