A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12330



Internal ID15497344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:228030018..228039918hg38UCSC Ensembl
Outerchr2:228025394..228041264hg38UCSC Ensembl
Innerchr2:228894734..228904634hg19UCSC Ensembl
Outerchr2:228890110..228905980hg19UCSC Ensembl
Innerchr2:228602978..228612878hg18UCSC Ensembl
Outerchr2:228598354..228614224hg18UCSC Ensembl
Innerchr2:228720239..228730139hg17UCSC Ensembl
Outerchr2:228715615..228731485hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3815871
hg1915871
hg1815871
hg1715871
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10221
Supporting Variants
SamplesNA19221
Known GenesSPHKAP
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)nssv12330
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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