A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17316



Internal ID15482672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7522556..7522636hg38UCSC Ensembl
Outerchr8:7522128..7523348hg38UCSC Ensembl
Innerchr8:7380078..7380158hg19UCSC Ensembl
Outerchr8:7379650..7380870hg19UCSC Ensembl
Innerchr8:7367488..7367568hg18UCSC Ensembl
Outerchr8:7367060..7368280hg18UCSC Ensembl
Innerchr8:7367488..7367568hg17UCSC Ensembl
Outerchr8:7367060..7368280hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381221
hg191221
hg181221
hg171221
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA10863
Known Genes
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)nssv17316
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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