A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28674



Internal ID15840835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240612035..240619355hg38UCSC Ensembl
Outerchr2:240605859..240620086hg38UCSC Ensembl
Innerchr2:241551452..241558772hg19UCSC Ensembl
Outerchr2:241545276..241559503hg19UCSC Ensembl
Innerchr2:241200125..241207445hg18UCSC Ensembl
Outerchr2:241193949..241208176hg18UCSC Ensembl
Innerchr2:241271442..241278762hg17UCSC Ensembl
Outerchr2:241265266..241279493hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3814228
hg1914228
hg1814228
hg1714228
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10227
Supporting Variants
SamplesNA18980
Known GenesGPR35
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)nssv28674
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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