A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16258



Internal ID15495959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76531331..76543201hg38UCSC Ensembl
Outerchr7:76527201..76544507hg38UCSC Ensembl
Innerchr7:76160648..76172518hg19UCSC Ensembl
Outerchr7:76156518..76173824hg19UCSC Ensembl
Innerchr7:75998584..76010454hg18UCSC Ensembl
Outerchr7:75994454..76011760hg18UCSC Ensembl
Innerchr7:75805299..75817169hg17UCSC Ensembl
Outerchr7:75801169..75818475hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3817307
hg1917307
hg1817307
hg1717307
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8160
Supporting Variants
SamplesNA19144
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)nssv16258
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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