A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16418



Internal ID15483758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103618944..103758535hg38UCSC Ensembl
Outerchr1:103617734..103763658hg38UCSC Ensembl
Innerchr1:104161566..104301157hg19UCSC Ensembl
Outerchr1:104160356..104306280hg19UCSC Ensembl
Innerchr1:103963089..104102680hg18UCSC Ensembl
Outerchr1:103961879..104107803hg18UCSC Ensembl
Innerchr1:103873587..104013178hg17UCSC Ensembl
Outerchr1:103872377..104018301hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38145925
hg19145925
hg18145925
hg17145925
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10428
Supporting Variants
SamplesNA12155
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
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)nssv16418
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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