A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23438



Internal ID15488860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:33795284..33829052hg38UCSC Ensembl
Outerchr16:33794498..33829551hg38UCSC Ensembl
Innerchr16:33597751..33631519hg19UCSC Ensembl
Outerchr16:33596965..33632018hg19UCSC Ensembl
Innerchr16:33505252..33539020hg18UCSC Ensembl
Outerchr16:33504466..33539519hg18UCSC Ensembl
Innerchr16:33505252..33539020hg17UCSC Ensembl
Outerchr16:33504466..33539519hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3835054
hg1935054
hg1835054
hg1735054
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA18552
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)nssv23438
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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