A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20404



Internal ID15482003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103618944..103678971hg38UCSC Ensembl
Outerchr1:103618378..103679005hg38UCSC Ensembl
Innerchr1:104161566..104221593hg19UCSC Ensembl
Outerchr1:104161000..104221627hg19UCSC Ensembl
Innerchr1:103963089..104023116hg18UCSC Ensembl
Outerchr1:103962523..104023150hg18UCSC Ensembl
Innerchr1:103873587..103933614hg17UCSC Ensembl
Outerchr1:103873021..103933648hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3860628
hg1960628
hg1860628
hg1760628
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10428
Supporting Variants
SamplesNA10839
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)nssv20404
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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