A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18533



Internal ID15839420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:91580643..91582153hg38UCSC Ensembl
Outerchr7:91579751..91589407hg38UCSC Ensembl
Innerchr7:91209958..91211468hg19UCSC Ensembl
Outerchr7:91209066..91218722hg19UCSC Ensembl
Innerchr7:91047894..91049404hg18UCSC Ensembl
Outerchr7:91047002..91056658hg18UCSC Ensembl
Innerchr7:90854609..90856119hg17UCSC Ensembl
Outerchr7:90853717..90863373hg17UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg389657
hg199657
hg189657
hg179657
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8176
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)nssv18533
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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