A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22930



Internal ID15836771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:30328815..30334187hg38UCSC Ensembl
Outerchr16:30328019..30335038hg38UCSC Ensembl
Innerchr16:30340136..30345508hg19UCSC Ensembl
Outerchr16:30339340..30346359hg19UCSC Ensembl
Innerchr16:30247637..30253009hg18UCSC Ensembl
Outerchr16:30246841..30253860hg18UCSC Ensembl
Innerchr16:30247637..30253009hg17UCSC Ensembl
Outerchr16:30246841..30253860hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg387020
hg197020
hg187020
hg177020
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9437
Supporting Variants
SamplesNA18564
Known GenesLOC595101
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)nssv22930
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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