A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18283



Internal ID15486624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102484474..102536728hg38UCSC Ensembl
Outerchr7:102483348..102537423hg38UCSC Ensembl
Innerchr7:102124921..102177175hg19UCSC Ensembl
Outerchr7:102123795..102177870hg19UCSC Ensembl
Innerchr7:101911926..101964180hg18UCSC Ensembl
Outerchr7:101910800..101964875hg18UCSC Ensembl
Innerchr7:101718641..101770895hg17UCSC Ensembl
Outerchr7:101717515..101771590hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3854076
hg1954076
hg1854076
hg1754076
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8192
Supporting Variants
SamplesNA18504
Known GenesRASA4B
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)nssv18283
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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