A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14891



Internal ID15485556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144286424..144365258hg38UCSC Ensembl
Outerchr7:144285379..144365745hg38UCSC Ensembl
Innerchr7:143983517..144062351hg19UCSC Ensembl
Outerchr7:143982472..144062838hg19UCSC Ensembl
Innerchr7:143614450..143693284hg18UCSC Ensembl
Outerchr7:143613405..143693771hg18UCSC Ensembl
Innerchr7:143421165..143499999hg17UCSC Ensembl
Outerchr7:143420120..143500486hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3880367
hg1980367
hg1880367
hg1780367
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA12872
Known GenesARHGEF34P, ARHGEF5, OR2A1, OR2A20P, OR2A42, 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)nssv14891
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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