A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26379



Internal ID15483730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161512005..161674883hg38UCSC Ensembl
Outerchr1:161511381..161675746hg38UCSC Ensembl
Innerchr1:161481795..161644673hg19UCSC Ensembl
Outerchr1:161481171..161645536hg19UCSC Ensembl
Innerchr1:159748419..159911297hg18UCSC Ensembl
Outerchr1:159747795..159912160hg18UCSC Ensembl
Innerchr1:158294850..158376340hg17UCSC Ensembl
Outerchr1:158294226..158377203hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38164366
hg19164366
hg18164366
hg1782978
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8502
Supporting Variants
SamplesNA12155
Known GenesFCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA6, HSPA7
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)nssv26379
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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