A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19313



Internal ID15839446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7013143..7013858hg38UCSC Ensembl
Outerchr8:7012083..7014413hg38UCSC Ensembl
Innerchr8:6870665..6871380hg19UCSC Ensembl
Outerchr8:6869605..6871935hg19UCSC Ensembl
Innerchr8:6858075..6858790hg18UCSC Ensembl
Outerchr8:6857015..6859345hg18UCSC Ensembl
Innerchr8:6858075..6858790hg17UCSC Ensembl
Outerchr8:6857015..6859345hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg382331
hg192331
hg182331
hg172331
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8278
Supporting Variants
SamplesNA18972
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)nssv19313
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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