A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18711



Internal ID15491926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144186145..144282234hg38UCSC Ensembl
Outerchr7:144185632..144282594hg38UCSC Ensembl
Innerchr7:143883238..143979327hg19UCSC Ensembl
Outerchr7:143882725..143979687hg19UCSC Ensembl
Innerchr7:143514171..143610260hg18UCSC Ensembl
Outerchr7:143513658..143610620hg18UCSC Ensembl
Innerchr7:143320886..143416975hg17UCSC Ensembl
Outerchr7:143320373..143417335hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3896963
hg1996963
hg1896963
hg1796963
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA18860
Known GenesARHGEF34P, ARHGEF35, CTAGE4, CTAGE8, OR2A1, OR2A20P, OR2A42, OR2A7, OR2A9P, RNU6-57P
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)nssv18711
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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