A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12446



Internal ID15841084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21983622..22014167hg38UCSC Ensembl
Outerchr1:21983033..22016838hg38UCSC Ensembl
Innerchr1:22310115..22340660hg19UCSC Ensembl
Outerchr1:22309526..22343331hg19UCSC Ensembl
Innerchr1:22182702..22213247hg18UCSC Ensembl
Outerchr1:22182113..22215918hg18UCSC Ensembl
Innerchr1:22055421..22085966hg17UCSC Ensembl
Outerchr1:22054832..22088637hg17UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3833806
hg1933806
hg1833806
hg1733806
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9657
Supporting Variants
SamplesNA19007
Known GenesCELA3A, CELA3B
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)nssv12446
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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