A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26725



Internal ID15839059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:13417570..13421299hg38UCSC Ensembl
Outerchr2:13417060..13428295hg38UCSC Ensembl
Innerchr2:13557695..13561424hg19UCSC Ensembl
Outerchr2:13557185..13568420hg19UCSC Ensembl
Innerchr2:13475146..13478875hg18UCSC Ensembl
Outerchr2:13474636..13485871hg18UCSC Ensembl
Innerchr2:13508293..13512022hg17UCSC Ensembl
Outerchr2:13507783..13519018hg17UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3811236
hg1911236
hg1811236
hg1711236
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9391
Supporting Variants
SamplesNA18942
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)nssv26725
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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