A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19188



Internal ID15836368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47556708..47565057hg38UCSC Ensembl
Outerchr10:47555125..47565102hg38UCSC Ensembl
Innerchr10:48955659..48963983hg19UCSC Ensembl
Outerchr10:48954092..48964028hg19UCSC Ensembl
Innerchr10:48575665..48583989hg18UCSC Ensembl
Outerchr10:48574098..48584034hg18UCSC Ensembl
Innerchr10:48575665..48583989hg17UCSC Ensembl
Outerchr10:48574098..48584034hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg389978
hg199937
hg189937
hg179937
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA18564
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)nssv19188
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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