A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11511



Internal ID15837941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131743817..131761531hg38UCSC Ensembl
Outerchr2:131742192..131761950hg38UCSC Ensembl
Innerchr2:132501390..132519104hg19UCSC Ensembl
Outerchr2:132499765..132519523hg19UCSC Ensembl
Innerchr2:132217860..132235574hg18UCSC Ensembl
Outerchr2:132216235..132235993hg18UCSC Ensembl
Innerchr2:132335122..132352836hg17UCSC Ensembl
Outerchr2:132333497..132353255hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3819759
hg1919759
hg1819759
hg1719759
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10186
Supporting Variants
SamplesNA18860
Known GenesC2orf27A
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)nssv11511
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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