A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15428



Internal ID15483974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103579691..103587923hg38UCSC Ensembl
Outerchr1:103579356..103596922hg38UCSC Ensembl
Innerchr1:104122313..104130545hg19UCSC Ensembl
Outerchr1:104121978..104139544hg19UCSC Ensembl
Innerchr1:103923836..103932068hg18UCSC Ensembl
Outerchr1:103923501..103941067hg18UCSC Ensembl
Innerchr1:103834334..103842566hg17UCSC Ensembl
Outerchr1:103833999..103851565hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3817567
hg1917567
hg1817567
hg1717567
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10428
Supporting Variants
SamplesNA12155
Known GenesAMY2B
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)nssv15428
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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