A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18470



Internal ID15837826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46748547..46783703hg38UCSC Ensembl
Outerchr10:46748035..46785270hg38UCSC Ensembl
Innerchr10:46765922..46801063hg19UCSC Ensembl
Outerchr10:46764355..46801575hg19UCSC Ensembl
Innerchr10:46185928..46221069hg18UCSC Ensembl
Outerchr10:46184361..46221581hg18UCSC Ensembl
Innerchr10:46185928..46221069hg17UCSC Ensembl
Outerchr10:46184361..46221581hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3837236
hg1937221
hg1837221
hg1737221
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)nssv18470
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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