A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27053



Internal ID15491742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:72056681..72076727hg38UCSC Ensembl
Outerchr16:72056256..72077793hg38UCSC Ensembl
Innerchr16:72090580..72110626hg19UCSC Ensembl
Outerchr16:72090155..72111692hg19UCSC Ensembl
Innerchr16:70648081..70668127hg18UCSC Ensembl
Outerchr16:70647656..70669193hg18UCSC Ensembl
Innerchr16:70648081..70668127hg17UCSC Ensembl
Outerchr16:70647656..70669193hg17UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg3821538
hg1921538
hg1821538
hg1721538
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9456
Supporting Variants
SamplesNA18860
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)nssv27053
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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