A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514257



Internal ID15465947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:144000341..144119733hg38UCSC Ensembl
Innerchr4:144921494..145040886hg19UCSC Ensembl
Innerchr4:145140944..145260336hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38119393
hg19119393
hg18119393
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2902218, nssv2902220, nssv2902217, nssv2902219
SamplesNA12249, NA18605, NA18593, NA18552
Known GenesGYPA, GYPB
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514257
Frequency
Sample Size2366
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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