A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17941



Internal ID15497712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7379317..7416794hg38UCSC Ensembl
Outerchr8:7378074..7417594hg38UCSC Ensembl
Innerchr8:7236839..7274316hg19UCSC Ensembl
Outerchr8:7235596..7275116hg19UCSC Ensembl
Innerchr8:7224249..7261726hg18UCSC Ensembl
Outerchr8:7223006..7262526hg18UCSC Ensembl
Innerchr8:7224249..7261726hg17UCSC Ensembl
Outerchr8:7223006..7262526hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3839521
hg1939521
hg1839521
hg1739521
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA19240
Known GenesDEFB4B
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)nssv17941
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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