A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv29274



Internal ID15495310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13309362..13310876hg38UCSC Ensembl
Outerchr1:13308717..13311465hg38UCSC Ensembl
Innerchr1:13414957..13416471hg19UCSC Ensembl
Outerchr1:13414312..13417060hg19UCSC Ensembl
Innerchr1:13287544..13289058hg18UCSC Ensembl
Outerchr1:13286899..13289647hg18UCSC Ensembl
Innerchr1:13160263..13161777hg17UCSC Ensembl
Outerchr1:13159618..13162366hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg382749
hg192749
hg182749
hg172749
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA19132
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)nssv29274
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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