A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12840



Internal ID15497137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:128485402..128499562hg38UCSC Ensembl
Outerchr3:128484494..128500274hg38UCSC Ensembl
Innerchr3:128204245..128218405hg19UCSC Ensembl
Outerchr3:128203337..128219117hg19UCSC Ensembl
Innerchr3:129686935..129701095hg18UCSC Ensembl
Outerchr3:129686027..129701807hg18UCSC Ensembl
Innerchr3:129686943..129701103hg17UCSC Ensembl
Outerchr3:129686035..129701815hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3815781
hg1915781
hg1815781
hg1715781
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10318
Supporting Variants
SamplesNA19221
Known GenesGATA2
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)nssv12840
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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