A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18796



Internal ID15835338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47553292..47688749hg38UCSC Ensembl
Outerchr10:47552937..47689747hg38UCSC Ensembl
Innerchr10:48952308..49086439hg19UCSC Ensembl
Outerchr10:48951955..49087438hg19UCSC Ensembl
Innerchr10:48572314..48706445hg18UCSC Ensembl
Outerchr10:48571961..48707444hg18UCSC Ensembl
Innerchr10:48572314..48706445hg17UCSC Ensembl
Outerchr10:48571961..48707444hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38136811
hg19135484
hg18135484
hg17135484
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA18552
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)nssv18796
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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