A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034228



Internal ID19123450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:29785378..29815761hg38UCSC Ensembl
Innerchr5:29785485..29815868hg19UCSC Ensembl
Innerchr5:29821242..29851625hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3830384
hg1930384
hg1830384
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3636011, nssv3636013, nssv3636012
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)nsv1034228
Frequency
Sample Size11257
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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