A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17107



Internal ID15483604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7992733..7993231hg38UCSC Ensembl
Outerchr8:7992715..7993886hg38UCSC Ensembl
Innerchr8:7850255..7850753hg19UCSC Ensembl
Outerchr8:7850237..7851408hg19UCSC Ensembl
Innerchr8:7887665..7888163hg18UCSC Ensembl
Outerchr8:7887647..7888818hg18UCSC Ensembl
Innerchr8:7887665..7888163hg17UCSC Ensembl
Outerchr8:7887647..7888818hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381172
hg191172
hg181172
hg171172
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA11830
Known GenesDEFB109P1B, FAM66E
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)nssv17107
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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