A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26720



Internal ID15489282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:315360..860771hg38UCSC Ensembl
Outerchr2:314425..861277hg38UCSC Ensembl
Innerchr2:315360..856457hg19UCSC Ensembl
Outerchr2:314425..856963hg19UCSC Ensembl
Innerchr2:305360..846457hg18UCSC Ensembl
Outerchr2:304425..846963hg18UCSC Ensembl
Innerchr2:305360..846457hg17UCSC Ensembl
Outerchr2:304425..846963hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38546853
hg19542539
hg18542539
hg17542539
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9258
Supporting Variants
SamplesNA18563
Known GenesLINC01115, TMEM18
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)nssv26720
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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