A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13423



Internal ID15486773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13236038..13241308hg38UCSC Ensembl
Outerchr1:13234219..13241766hg38UCSC Ensembl
Innerchr1:13341616..13346931hg19UCSC Ensembl
Outerchr1:13339796..13347389hg19UCSC Ensembl
Innerchr1:13214203..13219518hg18UCSC Ensembl
Outerchr1:13212383..13219976hg18UCSC Ensembl
Innerchr1:13086922..13092237hg17UCSC Ensembl
Outerchr1:13085102..13092695hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg387548
hg197594
hg187594
hg177594
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA18504
Known Genes
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)nssv13423
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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