A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16986



Internal ID15829564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:153815656..153815784hg38UCSC Ensembl
Outerchr7:153812768..153816318hg38UCSC Ensembl
Innerchr7:153512741..153512869hg19UCSC Ensembl
Outerchr7:153509853..153513403hg19UCSC Ensembl
Innerchr7:153143674..153143802hg18UCSC Ensembl
Outerchr7:153140786..153144336hg18UCSC Ensembl
Innerchr7:152950389..152950517hg17UCSC Ensembl
Outerchr7:152947501..152951051hg17UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg383551
hg193551
hg183551
hg173551
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8237
Supporting Variants
SamplesNA10863
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)nssv16986
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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