A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8049



Internal ID15845961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:13063196..13092007hg38UCSC Ensembl
Outerchr7:13102821..13131632hg19UCSC Ensembl
Outerchr7:13069346..13098157hg18UCSC Ensembl
Outerchr7:12876061..12904872hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3828812
hg1928812
hg1828812
hg1728812
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16842
SamplesNA18502
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)nsv8049
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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