A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19356



Internal ID15482954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133570450..133577736hg38UCSC Ensembl
Outerchr10:133568450..133578572hg38UCSC Ensembl
Innerchr10:135383954..135391240hg19UCSC Ensembl
Outerchr10:135381954..135392076hg19UCSC Ensembl
Innerchr10:135233944..135241230hg18UCSC Ensembl
Outerchr10:135231944..135242066hg18UCSC Ensembl
Innerchr10:135272835..135280121hg17UCSC Ensembl
Outerchr10:135270835..135280957hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3810123
hg1910123
hg1810123
hg1710123
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8752
Supporting Variants
SamplesNA10863
Known GenesSPRNP1, SYCE1
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)nssv19356
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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