A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17991



Internal ID15491414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76527132..76543220hg38UCSC Ensembl
Outerchr7:76526886..76544005hg38UCSC Ensembl
Innerchr7:76156449..76172537hg19UCSC Ensembl
Outerchr7:76156203..76173322hg19UCSC Ensembl
Innerchr7:75994385..76010473hg18UCSC Ensembl
Outerchr7:75994139..76011258hg18UCSC Ensembl
Innerchr7:75801100..75817188hg17UCSC Ensembl
Outerchr7:75800854..75817973hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3817120
hg1917120
hg1817120
hg1717120
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8160
Supporting Variants
SamplesNA18860
Known GenesUPK3B
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)nssv17991
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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