A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001172



Internal ID19090389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:89358106..89371326hg38UCSC Ensembl
Innerchr3:89407256..89420476hg19UCSC Ensembl
Innerchr3:89489946..89503166hg18UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg3813221
hg1913221
hg1813221
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4808n100
Supporting Variantsnssv3603261, nssv3603262
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)nsv1001172
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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