A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28152



Internal ID15492169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87845855..87923224hg38UCSC Ensembl
Outerchr2:87827141..87934608hg38UCSC Ensembl
Innerchr2:88145374..88222743hg19UCSC Ensembl
Outerchr2:88126660..88234127hg19UCSC Ensembl
Innerchr2:87926489..88003858hg18UCSC Ensembl
Outerchr2:87907775..88015242hg18UCSC Ensembl
Innerchr2:87984636..88062005hg17UCSC Ensembl
Outerchr2:87965922..88073389hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38107468
hg19107468
hg18107468
hg17107468
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10070
Supporting Variants
SamplesNA18942
Known GenesRGPD1
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)nssv28152
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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