A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030684



Internal ID19119903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:18607196..18675639hg38UCSC Ensembl
Innerchr5:18607305..18675748hg19UCSC Ensembl
Innerchr5:18643062..18711505hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3868444
hg1968444
hg1868444
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5593n100
Supporting Variantsnssv3635886
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030684
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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