A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11781



Internal ID15491960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13103100..13109775hg38UCSC Ensembl
Outerchr1:13102122..13111025hg38UCSC Ensembl
Innerchr1:13170568..13177247hg19UCSC Ensembl
Outerchr1:13169590..13178497hg19UCSC Ensembl
Innerchr1:13093155..13099834hg18UCSC Ensembl
Outerchr1:13092177..13101084hg18UCSC Ensembl
Innerchr1:12994551..13001230hg17UCSC Ensembl
Outerchr1:12993573..13002480hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg388904
hg198908
hg188908
hg178908
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA18860
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)nssv11781
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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