A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13419



Internal ID15484632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16751760..16756759hg38UCSC Ensembl
Outerchr1:16750997..16757287hg38UCSC Ensembl
Innerchr1:17078255..17083254hg19UCSC Ensembl
Outerchr1:17077492..17083782hg19UCSC Ensembl
Innerchr1:16950842..16955841hg18UCSC Ensembl
Outerchr1:16950079..16956369hg18UCSC Ensembl
Innerchr1:16823561..16828560hg17UCSC Ensembl
Outerchr1:16822798..16829088hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg386291
hg196291
hg186291
hg176291
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA12740
Known GenesMST1L
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)nssv13419
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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