A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514325



Internal ID15812738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:142639883..142640379hg38UCSC Ensembl
Innerchr5:142019448..142019944hg19UCSC Ensembl
Innerchr5:141999632..142000128hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38497
hg19497
hg18497
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2917745, nssv2917752, nssv2917749, nssv2917750, nssv2917747, nssv2917748, nssv2917751, nssv2917746, nssv2917744
SamplesNA19249, NA18855, NA19190, NA21523, NA21400, NA19175, NA19177, NA18857, NA19248
Known GenesFGF1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514325
Frequency
Sample Size2366
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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