A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27524



Internal ID15840571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:129984271..129990530hg38UCSC Ensembl
Outerchr2:129983580..129991018hg38UCSC Ensembl
Innerchr2:130741844..130748103hg19UCSC Ensembl
Outerchr2:130741153..130748591hg19UCSC Ensembl
Innerchr2:130458314..130464573hg18UCSC Ensembl
Outerchr2:130457623..130465061hg18UCSC Ensembl
Innerchr2:130458074..130464333hg17UCSC Ensembl
Outerchr2:130457383..130464821hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg387439
hg197439
hg187439
hg177439
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10157
Supporting Variants
SamplesNA18980
Known Genes
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)nssv27524
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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