A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14783



Internal ID15492610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:27745..30290hg38UCSC Ensembl
Outerchr1:27745..30664hg38UCSC Ensembl
Innerchr1:27745..30290hg19UCSC Ensembl
Outerchr1:27745..30664hg19UCSC Ensembl
Innerchr1:17608..20153hg18UCSC Ensembl
Outerchr1:17608..20527hg18UCSC Ensembl
Innerchr1:17608..20153hg17UCSC Ensembl
Outerchr1:17608..20527hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg382920
hg192920
hg182920
hg172920
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7879
Supporting Variants
SamplesNA18972
Known GenesWASH7P
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)nssv14783
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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