A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14787



Internal ID15495485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21411..28117hg38UCSC Ensembl
Outerchr1:21064..28577hg38UCSC Ensembl
Innerchr1:21411..28117hg19UCSC Ensembl
Outerchr1:21064..28577hg19UCSC Ensembl
Innerchr1:11274..17980hg18UCSC Ensembl
Outerchr1:10927..18440hg18UCSC Ensembl
Innerchr1:11274..17980hg17UCSC Ensembl
Outerchr1:10927..18440hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg387514
hg197514
hg187514
hg177514
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7879
Supporting Variants
SamplesNA19132
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)nssv14787
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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