A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18914



Internal ID15487787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102598819..102598825hg38UCSC Ensembl
Outerchr7:102597007..102600073hg38UCSC Ensembl
Innerchr7:102239266..102239272hg19UCSC Ensembl
Outerchr7:102237454..102240520hg19UCSC Ensembl
Innerchr7:102026334..102026340hg18UCSC Ensembl
Outerchr7:102024523..102027592hg18UCSC Ensembl
Innerchr7:101833049..101833055hg17UCSC Ensembl
Outerchr7:101831238..101834307hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg383067
hg193067
hg183070
hg173070
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8192
Supporting Variants
SamplesNA18517
Known GenesPOLR2J3, RASA4, RASA4B
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)nssv18914
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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