A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033958



Internal ID19123180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180972361..181044823hg38UCSC Ensembl
Innerchr5:180399361..180471823hg19UCSC Ensembl
Innerchr5:180331967..180404429hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3872463
hg1972463
hg1872463
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5857n100
Supporting Variantsnssv3650327
Samples
Known GenesBTNL3, BTNL9, MIR8089
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1033958
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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