A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15310



Internal ID15485046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144213587..144337401hg38UCSC Ensembl
Outerchr7:144213065..144337923hg38UCSC Ensembl
Innerchr7:143910680..144034494hg19UCSC Ensembl
Outerchr7:143910158..144035016hg19UCSC Ensembl
Innerchr7:143541613..143665427hg18UCSC Ensembl
Outerchr7:143541091..143665949hg18UCSC Ensembl
Innerchr7:143348328..143472142hg17UCSC Ensembl
Outerchr7:143347806..143472664hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38124859
hg19124859
hg18124859
hg17124859
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA12802
Known GenesARHGEF34P, CTAGE4, CTAGE8, OR2A1, OR2A20P, OR2A42, OR2A7, OR2A9P
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)nssv15310
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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