A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16114



Internal ID15481842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143748399..143757051hg38UCSC Ensembl
Outerchr7:143747479..143757709hg38UCSC Ensembl
Innerchr7:143445492..143454144hg19UCSC Ensembl
Outerchr7:143444572..143454802hg19UCSC Ensembl
Innerchr7:143076425..143085077hg18UCSC Ensembl
Outerchr7:143075505..143085735hg18UCSC Ensembl
Innerchr7:142883140..142891792hg17UCSC Ensembl
Outerchr7:142882220..142892450hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3810231
hg1910231
hg1810231
hg1710231
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA10839
Known GenesCTAGE6
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)nssv16114
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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