A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18234



Internal ID15840050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47556708..47617409hg38UCSC Ensembl
Outerchr10:47555125..47618258hg38UCSC Ensembl
Innerchr10:48955659..49016368hg19UCSC Ensembl
Outerchr10:48954092..49017217hg19UCSC Ensembl
Innerchr10:48575665..48636374hg18UCSC Ensembl
Outerchr10:48574098..48637223hg18UCSC Ensembl
Innerchr10:48575665..48636374hg17UCSC Ensembl
Outerchr10:48574098..48637223hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3863134
hg1963126
hg1863126
hg1763126
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA18975
Known GenesGLUD1P7
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)nssv18234
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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