A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14760



Internal ID15496896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16851107..16868401hg38UCSC Ensembl
Outerchr1:16850525..16869237hg38UCSC Ensembl
Innerchr1:17177602..17194896hg19UCSC Ensembl
Outerchr1:17177020..17195732hg19UCSC Ensembl
Innerchr1:17050189..17067483hg18UCSC Ensembl
Outerchr1:17049607..17068319hg18UCSC Ensembl
Innerchr1:16922908..16940202hg17UCSC Ensembl
Outerchr1:16922326..16941038hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3818713
hg1918713
hg1818713
hg1718713
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA19221
Known GenesMIR3675
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)nssv14760
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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