A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26733



Internal ID15497579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161513223..161522700hg38UCSC Ensembl
Outerchr1:161512005..161523978hg38UCSC Ensembl
Innerchr1:161483013..161492490hg19UCSC Ensembl
Outerchr1:161481795..161493768hg19UCSC Ensembl
Innerchr1:159749637..159759114hg18UCSC Ensembl
Outerchr1:159748419..159760392hg18UCSC Ensembl
Innerchr1:158296068..158305545hg17UCSC Ensembl
Outerchr1:158294850..158306823hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3811974
hg1911974
hg1811974
hg1711974
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8502
Supporting Variants
SamplesNA19221
Known GenesFCGR2A
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)nssv26733
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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