A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24600



Internal ID15484847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:820233..822966hg38UCSC Ensembl
Outerchr1:819627..823710hg38UCSC Ensembl
Innerchr1:755613..758346hg19UCSC Ensembl
Outerchr1:755007..759090hg19UCSC Ensembl
Innerchr1:745476..748209hg18UCSC Ensembl
Outerchr1:744870..748953hg18UCSC Ensembl
Innerchr1:795476..798209hg17UCSC Ensembl
Outerchr1:794870..798953hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg384084
hg194084
hg184084
hg174084
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10161
Supporting Variants
SamplesNA12740
Known GenesFAM87B
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)nssv24600
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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