A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12092



Internal ID15480770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13274044..13280995hg38UCSC Ensembl
Outerchr1:13273693..13281191hg38UCSC Ensembl
Innerchr1:13379654..13386606hg19UCSC Ensembl
Outerchr1:13379303..13386802hg19UCSC Ensembl
Innerchr1:13252241..13259193hg18UCSC Ensembl
Outerchr1:13251890..13259389hg18UCSC Ensembl
Innerchr1:13124960..13131912hg17UCSC Ensembl
Outerchr1:13124609..13132108hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg387499
hg197500
hg187500
hg177500
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA07029
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)nssv12092
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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