A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514163



Internal ID15812507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100828498..100952002hg38UCSC Ensembl
Innerchr3:100547342..100670846hg19UCSC Ensembl
Innerchr3:102030032..102153536hg18UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38123505
hg19123505
hg18123505
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2889280, nssv2889282, nssv2889281, nssv2889274, nssv2889277, nssv2889279, nssv2889278, nssv2889275, nssv2889273, nssv2889276
SamplesNA18507, NA21479, NA18498, NA19209, NA19194, NA19193, NA18500, NA18506, NA18854, NA18852
Known GenesABI3BP
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514163
Frequency
Sample Size2366
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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