A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19229



Internal ID15843148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46798400..46801517hg38UCSC Ensembl
Outerchr10:46798088..46802217hg38UCSC Ensembl
Innerchr10:46748076..46751194hg19UCSC Ensembl
Outerchr10:46747376..46751506hg19UCSC Ensembl
Innerchr10:46168082..46171200hg18UCSC Ensembl
Outerchr10:46167382..46171512hg18UCSC Ensembl
Innerchr10:46168082..46171200hg17UCSC Ensembl
Outerchr10:46167382..46171512hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg384130
hg194131
hg184131
hg174131
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA19173
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)nssv19229
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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