A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13769



Internal ID15496647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13233168..13240633hg38UCSC Ensembl
Outerchr1:13233153..13241308hg38UCSC Ensembl
Innerchr1:13338764..13346255hg19UCSC Ensembl
Outerchr1:13338749..13346931hg19UCSC Ensembl
Innerchr1:13211351..13218842hg18UCSC Ensembl
Outerchr1:13211336..13219518hg18UCSC Ensembl
Innerchr1:13084070..13091561hg17UCSC Ensembl
Outerchr1:13084055..13092237hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg388156
hg198183
hg188183
hg178183
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA19173
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)nssv13769
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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