A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514259



Internal ID15465949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:153311414..153313526hg38UCSC Ensembl
Innerchr4:154232566..154234678hg19UCSC Ensembl
Innerchr4:154452016..154454128hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg382113
hg192113
hg182113
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2903344, nssv2903348, nssv2903346, nssv2903341, nssv2903337, nssv2903339, nssv2903347, nssv2903336, nssv2903345, nssv2903338, nssv2903342, nssv2903340, nssv2903343
SamplesNA21490, NA19209, NA21718, NA18855, NA19211, NA21488, NA21716, NA19100, NA19129, NA21486, NA19128, NA18857, NA19099
Known GenesTRIM2
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514259
Frequency
Sample Size2366
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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