A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17488



Internal ID15495863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7967601..7979964hg38UCSC Ensembl
Outerchr8:7967098..7980200hg38UCSC Ensembl
Innerchr8:7825123..7837486hg19UCSC Ensembl
Outerchr8:7824620..7837722hg19UCSC Ensembl
Innerchr8:7862533..7874896hg18UCSC Ensembl
Outerchr8:7862030..7875132hg18UCSC Ensembl
Innerchr8:7862533..7874896hg17UCSC Ensembl
Outerchr8:7862030..7875132hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3813103
hg1913103
hg1813103
hg1713103
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA19144
Known GenesFAM66E, USP17L3, USP17L8
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)nssv17488
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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