A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19013



Internal ID15492750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144186145..144374713hg38UCSC Ensembl
Outerchr7:144185632..144374955hg38UCSC Ensembl
Innerchr7:143883238..144071806hg19UCSC Ensembl
Outerchr7:143882725..144072048hg19UCSC Ensembl
Innerchr7:143514171..143702739hg18UCSC Ensembl
Outerchr7:143513658..143702981hg18UCSC Ensembl
Innerchr7:143320886..143509454hg17UCSC Ensembl
Outerchr7:143320373..143509696hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38189324
hg19189324
hg18189324
hg17189324
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA18972
Known GenesARHGEF34P, ARHGEF35, ARHGEF5, 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)nssv19013
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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