A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592885



Internal ID16380294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:192671511..192674211hg38UCSC Ensembl
Innerchr3:192389300..192392000hg19UCSC Ensembl
Innerchr3:193871994..193874694hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg382701
hg192701
hg182701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8805n54
Supporting Variantsnssv984196, nssv984195, nssv984193, nssv984194
Samples
Known GenesFGF12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592885
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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