A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11778



Internal ID15489774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13221699..13244810hg38UCSC Ensembl
Innerchr1:13327164..13350433hg19UCSC Ensembl
Innerchr1:13199751..13223020hg18UCSC Ensembl
Innerchr1:13072470..13095739hg17UCSC Ensembl
Outerchr1:13015127..13096700hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3823112
hg1923270
hg1823270
hg1781574
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA18564
Known GenesPRAMEF22, PRAMEF3
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)nssv11778
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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