A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20521



Internal ID15844673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46777526..46783703hg38UCSC Ensembl
Outerchr10:46777143..46785270hg38UCSC Ensembl
Innerchr10:46765922..46772101hg19UCSC Ensembl
Outerchr10:46764355..46772484hg19UCSC Ensembl
Innerchr10:46185928..46192107hg18UCSC Ensembl
Outerchr10:46184361..46192490hg18UCSC Ensembl
Innerchr10:46185928..46192107hg17UCSC Ensembl
Outerchr10:46184361..46192490hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg388128
hg198130
hg188130
hg178130
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA19240
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)nssv20521
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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