A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14097



Internal ID15495397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103664397..103676396hg38UCSC Ensembl
Outerchr1:103664376..103676457hg38UCSC Ensembl
Innerchr1:104207019..104219018hg19UCSC Ensembl
Outerchr1:104206998..104219079hg19UCSC Ensembl
Innerchr1:104008542..104020541hg18UCSC Ensembl
Outerchr1:104008521..104020602hg18UCSC Ensembl
Innerchr1:103919040..103931039hg17UCSC Ensembl
Outerchr1:103919019..103931100hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3812082
hg1912082
hg1812082
hg1712082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10428
Supporting Variants
SamplesNA19132
Known GenesAMY1A, AMY1B, AMY1C
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)nssv14097
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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