A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27292



Internal ID15840710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:129932066..129932443hg38UCSC Ensembl
Outerchr2:129931369..129933150hg38UCSC Ensembl
Innerchr2:130689639..130690016hg19UCSC Ensembl
Outerchr2:130688942..130690723hg19UCSC Ensembl
Innerchr2:130406109..130406486hg18UCSC Ensembl
Outerchr2:130405412..130407193hg18UCSC Ensembl
Innerchr2:130405869..130406246hg17UCSC Ensembl
Outerchr2:130405172..130406953hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381782
hg191782
hg181782
hg171782
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10157
Supporting Variants
SamplesNA18980
Known GenesLOC389033
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)nssv27292
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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