A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18108



Internal ID15489879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:777202..915486hg38UCSC Ensembl
Outerchr1:776731..915998hg38UCSC Ensembl
Innerchr1:712582..850866hg19UCSC Ensembl
Outerchr1:712111..851378hg19UCSC Ensembl
Innerchr1:702445..840729hg18UCSC Ensembl
Outerchr1:701974..841241hg18UCSC Ensembl
Innerchr1:752445..890729hg17UCSC Ensembl
Outerchr1:751974..891241hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38139268
hg19139268
hg18139268
hg17139268
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10161
Supporting Variants
SamplesNA18564
Known GenesFAM41C, FAM87B, 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)nssv18108
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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