A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13763



Internal ID15492576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13271981..13278414hg38UCSC Ensembl
Outerchr1:13270248..13279960hg38UCSC Ensembl
Innerchr1:13377591..13384024hg19UCSC Ensembl
Outerchr1:13375869..13385571hg19UCSC Ensembl
Innerchr1:13250178..13256611hg18UCSC Ensembl
Outerchr1:13248456..13258158hg18UCSC Ensembl
Innerchr1:13122897..13129330hg17UCSC Ensembl
Outerchr1:13121175..13130877hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg389713
hg199703
hg189703
hg179703
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA18972
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)nssv13763
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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