A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18904



Internal ID15828337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46798924..46800592hg38UCSC Ensembl
Outerchr10:46798751..46801108hg38UCSC Ensembl
Innerchr10:48197952..48200030hg19UCSC Ensembl
Outerchr10:48197779..48200546hg19UCSC Ensembl
Innerchr10:47817958..47820036hg18UCSC Ensembl
Outerchr10:47817785..47820552hg18UCSC Ensembl
Innerchr10:47817958..47820036hg17UCSC Ensembl
Outerchr10:47817785..47820552hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg382358
hg192768
hg182768
hg172768
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA10839
Known GenesBMS1P2, BMS1P6
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)nssv18904
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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