A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204



Internal ID15840270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47539347..47541934hg38UCSC Ensembl
Outerchr10:47538813..47542108hg38UCSC Ensembl
Innerchr10:48938785..48940962hg19UCSC Ensembl
Outerchr10:48938251..48941135hg19UCSC Ensembl
Innerchr10:48558791..48560968hg18UCSC Ensembl
Outerchr10:48558257..48561141hg18UCSC Ensembl
Innerchr10:48558791..48560968hg17UCSC Ensembl
Outerchr10:48558257..48561141hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg383296
hg192885
hg182885
hg172885
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA18975
Known GenesBMS1P1, BMS1P5
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)nssv18204
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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