A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18895



Internal ID15840845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47545561..47572833hg38UCSC Ensembl
Outerchr10:47545512..47572952hg38UCSC Ensembl
Innerchr10:48944576..48971769hg19UCSC Ensembl
Outerchr10:48944527..48971888hg19UCSC Ensembl
Innerchr10:48564582..48591775hg18UCSC Ensembl
Outerchr10:48564533..48591894hg18UCSC Ensembl
Innerchr10:48564582..48591775hg17UCSC Ensembl
Outerchr10:48564533..48591894hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3827441
hg1927362
hg1827362
hg1727362
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA18980
Known GenesBMS1P1, BMS1P5, GLUD1P7
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)nssv18895
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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