A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18830



Internal ID15837885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47556708..47582163hg38UCSC Ensembl
Outerchr10:47555125..47582464hg38UCSC Ensembl
Innerchr10:48955659..48981115hg19UCSC Ensembl
Outerchr10:48954092..48981416hg19UCSC Ensembl
Innerchr10:48575665..48601121hg18UCSC Ensembl
Outerchr10:48574098..48601422hg18UCSC Ensembl
Innerchr10:48575665..48601121hg17UCSC Ensembl
Outerchr10:48574098..48601422hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3827340
hg1927325
hg1827325
hg1727325
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA18853
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)nssv18830
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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