A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25437



Internal ID15497962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:72056681..72078410hg38UCSC Ensembl
Outerchr16:72056256..72084423hg38UCSC Ensembl
Innerchr16:72090580..72112309hg19UCSC Ensembl
Outerchr16:72090155..72118322hg19UCSC Ensembl
Innerchr16:70648081..70669810hg18UCSC Ensembl
Outerchr16:70647656..70675823hg18UCSC Ensembl
Innerchr16:70648081..70669810hg17UCSC Ensembl
Outerchr16:70647656..70675823hg17UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg3828168
hg1928168
hg1828168
hg1728168
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9456
Supporting Variants
SamplesNA19240
Known GenesHP, HPR
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)nssv25437
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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