A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16818



Internal ID15490100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144181744..144376529hg38UCSC Ensembl
Outerchr7:144180913..144377427hg38UCSC Ensembl
Innerchr7:143878837..144073622hg19UCSC Ensembl
Outerchr7:143878006..144074520hg19UCSC Ensembl
Innerchr7:143509770..143704555hg18UCSC Ensembl
Outerchr7:143508939..143705453hg18UCSC Ensembl
Innerchr7:143316485..143511270hg17UCSC Ensembl
Outerchr7:143315654..143512168hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38196515
hg19196515
hg18196515
hg17196515
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA18564
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)nssv16818
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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