A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17087



Internal ID15489219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103618944..103758535hg38UCSC Ensembl
Outerchr1:103618378..103764036hg38UCSC Ensembl
Innerchr1:104161566..104301157hg19UCSC Ensembl
Outerchr1:104161000..104306658hg19UCSC Ensembl
Innerchr1:103963089..104102680hg18UCSC Ensembl
Outerchr1:103962523..104108181hg18UCSC Ensembl
Innerchr1:103873587..104013178hg17UCSC Ensembl
Outerchr1:103873021..104018679hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38145659
hg19145659
hg18145659
hg17145659
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10428
Supporting Variants
SamplesNA18563
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)nssv17087
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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