A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012186



Internal ID19101404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:89357863..89370219hg38UCSC Ensembl
Innerchr3:89407013..89419369hg19UCSC Ensembl
Innerchr3:89489703..89502059hg18UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg3812357
hg1912357
hg1812357
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4808n100
Supporting Variantsnssv3603244, nssv3603237, nssv3603239, nssv3603242, nssv3603243, nssv3603236, nssv3603238, nssv3603245, nssv3603241, nssv3603240
Samples
Known GenesEPHA3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012186
Frequency
Sample Size11257
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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