A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17829



Internal ID15484749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12378726..12381190hg38UCSC Ensembl
Outerchr8:12377957..12381742hg38UCSC Ensembl
Innerchr8:12236235..12238699hg19UCSC Ensembl
Outerchr8:12235466..12239251hg19UCSC Ensembl
Innerchr8:12280606..12283070hg18UCSC Ensembl
Outerchr8:12279837..12283622hg18UCSC Ensembl
Innerchr8:12280606..12283070hg17UCSC Ensembl
Outerchr8:12279837..12283622hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg383786
hg193786
hg183786
hg173786
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA12740
Known GenesFAM66A, LOC649352
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)nssv17829
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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