A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17350



Internal ID15831811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47553292..47696741hg38UCSC Ensembl
Outerchr10:47552937..47697486hg38UCSC Ensembl
Innerchr10:48952308..49094746hg19UCSC Ensembl
Outerchr10:48951955..49095491hg19UCSC Ensembl
Innerchr10:48572314..48714752hg18UCSC Ensembl
Outerchr10:48571961..48715497hg18UCSC Ensembl
Innerchr10:48572314..48714752hg17UCSC Ensembl
Outerchr10:48571961..48715497hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38144550
hg19143537
hg18143537
hg17143537
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA12802
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)nssv17350
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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