A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16224



Internal ID15493391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12111635..12111649hg38UCSC Ensembl
Outerchr8:12111353..12112500hg38UCSC Ensembl
Innerchr8:11969144..11969158hg19UCSC Ensembl
Outerchr8:11968862..11970009hg19UCSC Ensembl
Innerchr8:12006553..12006567hg18UCSC Ensembl
Outerchr8:12006271..12007418hg18UCSC Ensembl
Innerchr8:12006553..12006567hg17UCSC Ensembl
Outerchr8:12006271..12007418hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381148
hg191148
hg181148
hg171148
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA18975
Known GenesZNF705D
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)nssv16224
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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