A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016343



Internal ID19105562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:108884415..109028986hg38UCSC Ensembl
Innerchr5:108220116..108364687hg19UCSC Ensembl
Innerchr5:108248015..108392586hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38144572
hg19144572
hg18144572
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3647005
Samples
Known GenesFER
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1016343
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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