A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24610



Internal ID15490190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:777202..828667hg38UCSC Ensembl
Outerchr1:776731..829460hg38UCSC Ensembl
Innerchr1:712582..764047hg19UCSC Ensembl
Outerchr1:712111..764840hg19UCSC Ensembl
Innerchr1:702445..753910hg18UCSC Ensembl
Outerchr1:701974..754703hg18UCSC Ensembl
Innerchr1:752445..803910hg17UCSC Ensembl
Outerchr1:751974..804703hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3852730
hg1952730
hg1852730
hg1752730
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10161
Supporting Variants
SamplesNA18572
Known GenesFAM87B, LINC00115, LINC01128, LOC100288069
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)nssv24610
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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