A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22161



Internal ID15838226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46757572..46794076hg38UCSC Ensembl
Outerchr10:46757419..46794398hg38UCSC Ensembl
Innerchr10:48156524..48193095hg19UCSC Ensembl
Outerchr10:48156371..48193413hg19UCSC Ensembl
Innerchr10:47776530..47813101hg18UCSC Ensembl
Outerchr10:47776377..47813419hg18UCSC Ensembl
Innerchr10:47776530..47813101hg17UCSC Ensembl
Outerchr10:47776377..47813419hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3836980
hg1937043
hg1837043
hg1737043
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA18860
Known GenesBMS1P2, BMS1P6, CTSLP2
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)nssv22161
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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