A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002312



Internal ID19091529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:89337939..89370219hg38UCSC Ensembl
Innerchr3:89387089..89419369hg19UCSC Ensembl
Innerchr3:89469779..89502059hg18UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg3832281
hg1932281
hg1832281
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4805n100
Supporting Variantsnssv3733771
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)nsv1002312
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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