A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18537



Internal ID15495166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143525976..143558309hg38UCSC Ensembl
Outerchr7:143525956..143558709hg38UCSC Ensembl
Innerchr7:143223069..143255402hg19UCSC Ensembl
Outerchr7:143223049..143255802hg19UCSC Ensembl
Innerchr7:142933191..142965524hg18UCSC Ensembl
Outerchr7:142933171..142965924hg18UCSC Ensembl
Innerchr7:142739906..142772239hg17UCSC Ensembl
Outerchr7:142739886..142772639hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3832754
hg1932754
hg1832754
hg1732754
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA19132
Known Genes
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)nssv18537
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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