A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21661



Internal ID15844790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:87073948..87084756hg38UCSC Ensembl
Outerchr10:87073496..87085715hg38UCSC Ensembl
Innerchr10:88833705..88844513hg19UCSC Ensembl
Outerchr10:88833253..88845472hg19UCSC Ensembl
Innerchr10:88823685..88834493hg18UCSC Ensembl
Outerchr10:88823233..88835452hg18UCSC Ensembl
Innerchr10:88823685..88834493hg17UCSC Ensembl
Outerchr10:88823233..88835452hg17UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg3812220
hg1912220
hg1812220
hg1712220
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8714
Supporting Variants
SamplesNA19240
Known GenesGLUD1
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)nssv21661
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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