A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8166



Internal ID15846078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:77123847..77164400hg38UCSC Ensembl
Outerchr7:76753164..76793717hg19UCSC Ensembl
Outerchr7:76591100..76631653hg18UCSC Ensembl
Outerchr7:76397815..76438368hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3840554
hg1940554
hg1840554
hg1740554
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15650, nssv19380, nssv18141
SamplesNA18860, NA19221, NA18853
Known GenesCCDC146
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)nsv8166
Frequency
Sample Size31
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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