A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18296



Internal ID15841476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46378626..46379960hg38UCSC Ensembl
Outerchr10:46378201..46380128hg38UCSC Ensembl
Innerchr10:47749886..47751220hg19UCSC Ensembl
Outerchr10:47749439..47751388hg19UCSC Ensembl
Innerchr10:47219892..47221226hg18UCSC Ensembl
Outerchr10:47219445..47221394hg18UCSC Ensembl
Innerchr10:47219892..47221226hg17UCSC Ensembl
Outerchr10:47219445..47221394hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg381928
hg191950
hg181950
hg171950
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA19007
Known GenesANXA8L1, ANXA8L2
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)nssv18296
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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