A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14086



Internal ID15488702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:31612461..31622882hg38UCSC Ensembl
Outerchr1:31609342..31623381hg38UCSC Ensembl
Innerchr1:32078062..32088483hg19UCSC Ensembl
Outerchr1:32074943..32088982hg19UCSC Ensembl
Innerchr1:31850649..31861070hg18UCSC Ensembl
Outerchr1:31847530..31861569hg18UCSC Ensembl
Innerchr1:31747155..31757576hg17UCSC Ensembl
Outerchr1:31744036..31758075hg17UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg3814040
hg1914040
hg1814040
hg1714040
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10062
Supporting Variants
SamplesNA18552
Known GenesHCRTR1
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)nssv14086
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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