A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15515



Internal ID15482209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144365258..144365745hg38UCSC Ensembl
Outerchr7:144365203..144365832hg38UCSC Ensembl
Innerchr7:144062351..144062838hg19UCSC Ensembl
Outerchr7:144062296..144062925hg19UCSC Ensembl
Innerchr7:143693284..143693771hg18UCSC Ensembl
Outerchr7:143693229..143693858hg18UCSC Ensembl
Innerchr7:143499999..143500486hg17UCSC Ensembl
Outerchr7:143499944..143500573hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38630
hg19630
hg18630
hg17630
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA10847
Known GenesARHGEF5
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)nssv15515
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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