A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19485



Internal ID15834838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:87075517..87076397hg38UCSC Ensembl
Outerchr10:87075037..87076848hg38UCSC Ensembl
Innerchr10:88835274..88836154hg19UCSC Ensembl
Outerchr10:88834794..88836605hg19UCSC Ensembl
Innerchr10:88825254..88826134hg18UCSC Ensembl
Outerchr10:88824774..88826585hg18UCSC Ensembl
Innerchr10:88825254..88826134hg17UCSC Ensembl
Outerchr10:88824774..88826585hg17UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg381812
hg191812
hg181812
hg171812
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8714
Supporting Variants
SamplesNA18537
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)nssv19485
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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