A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24598



Internal ID15483182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12890338..12892439hg38UCSC Ensembl
Outerchr1:12890128..12893083hg38UCSC Ensembl
Innerchr1:12950168..12952270hg19UCSC Ensembl
Outerchr1:12949958..12952914hg19UCSC Ensembl
Innerchr1:12872755..12874857hg18UCSC Ensembl
Outerchr1:12872545..12875501hg18UCSC Ensembl
Innerchr1:12884434..12886536hg17UCSC Ensembl
Outerchr1:12884224..12887180hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg382956
hg192957
hg182957
hg172957
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA11830
Known GenesPRAMEF10
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)nssv24598
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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