A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26897



Internal ID15493285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12849530..12866448hg38UCSC Ensembl
Outerchr1:12848985..12874525hg38UCSC Ensembl
Innerchr1:12909383..12926303hg19UCSC Ensembl
Outerchr1:12908838..12934346hg19UCSC Ensembl
Innerchr1:12831970..12848890hg18UCSC Ensembl
Outerchr1:12831425..12856933hg18UCSC Ensembl
Innerchr1:12843649..12860569hg17UCSC Ensembl
Outerchr1:12843104..12868612hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3825541
hg1925509
hg1825509
hg1725509
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA18975
Known GenesPRAMEF2
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)nssv26897
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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