A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13747



Internal ID15483378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103598380..103758535hg38UCSC Ensembl
Outerchr1:103597900..103763658hg38UCSC Ensembl
Innerchr1:104141002..104301157hg19UCSC Ensembl
Outerchr1:104140522..104306280hg19UCSC Ensembl
Innerchr1:103942525..104102680hg18UCSC Ensembl
Outerchr1:103942045..104107803hg18UCSC Ensembl
Innerchr1:103853023..104013178hg17UCSC Ensembl
Outerchr1:103852543..104018301hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38165759
hg19165759
hg18165759
hg17165759
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10428
Supporting Variants
SamplesNA11830
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)nssv13747
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer