A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11622



Internal ID15486439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:208372754..208381691hg38UCSC Ensembl
Outerchr2:208372424..208382669hg38UCSC Ensembl
Innerchr2:209237479..209246416hg19UCSC Ensembl
Outerchr2:209237149..209247394hg19UCSC Ensembl
Innerchr2:208945724..208954661hg18UCSC Ensembl
Outerchr2:208945394..208955639hg18UCSC Ensembl
Innerchr2:209062985..209071922hg17UCSC Ensembl
Outerchr2:209062655..209072900hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3810246
hg1910246
hg1810246
hg1710246
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10216
Supporting Variants
SamplesNA18502
Known GenesPTH2R
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)nssv11622
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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