A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19657



Internal ID15830098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47556708..47575351hg38UCSC Ensembl
Outerchr10:47555125..47581275hg38UCSC Ensembl
Innerchr10:48955659..48974294hg19UCSC Ensembl
Outerchr10:48954092..48980225hg19UCSC Ensembl
Innerchr10:48575665..48594300hg18UCSC Ensembl
Outerchr10:48574098..48600231hg18UCSC Ensembl
Innerchr10:48575665..48594300hg17UCSC Ensembl
Outerchr10:48574098..48600231hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3826151
hg1926134
hg1826134
hg1726134
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA11830
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)nssv19657
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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