A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14980



Internal ID15485033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:105123609..105513333hg38UCSC Ensembl
Outerchr7:105123112..105515531hg38UCSC Ensembl
Innerchr7:104764056..105153780hg19UCSC Ensembl
Outerchr7:104763559..105155978hg19UCSC Ensembl
Innerchr7:104551292..104941016hg18UCSC Ensembl
Outerchr7:104550795..104943214hg18UCSC Ensembl
Innerchr7:104358007..104747731hg17UCSC Ensembl
Outerchr7:104357510..104749929hg17UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg38392420
hg19392420
hg18392420
hg17392420
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8196
Supporting Variants
SamplesNA12802
Known GenesPUS7, SRPK2
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)nssv14980
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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