A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18261



Internal ID15838006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:97927588..97928776hg38UCSC Ensembl
Outerchr7:97927266..97929330hg38UCSC Ensembl
Innerchr7:97556900..97558088hg19UCSC Ensembl
Outerchr7:97556578..97558642hg19UCSC Ensembl
Innerchr7:97394836..97396024hg18UCSC Ensembl
Outerchr7:97394514..97396578hg18UCSC Ensembl
Innerchr7:97201551..97202739hg17UCSC Ensembl
Outerchr7:97201229..97203293hg17UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg382065
hg192065
hg182065
hg172065
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8179
Supporting Variants
SamplesNA18860
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)nssv18261
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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