A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018122



Internal ID18760655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180951876..181015908hg38UCSC Ensembl
Innerchr5:180378876..180442908hg19UCSC Ensembl
Innerchr5:180311482..180375514hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3864033
hg1964033
hg1864033
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5853n100
Supporting Variantsnssv3746723, nssv3746727, nssv3650294, nssv3746744, nssv3650288, nssv3746732, nssv3650296, nssv3650293, nssv3746724, nssv3746720, nssv3746737, nssv3746733, nssv3650291, nssv3746734, nssv3746742, nssv3746735, nssv3746730, nssv3746741, nssv3650292, nssv3746721, nssv3650300, nssv3650298, nssv3746726, nssv3650297, nssv3746740, nssv3746731, nssv3746738, nssv3746743, nssv3746722, nssv3650290, nssv3746728, nssv3650289, nssv3746739, nssv3650299, nssv3746725, nssv3746736, nssv3746729, nssv3650295
Samples
Known GenesBTNL3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018122
Frequency
Sample Size29084
Observed Gain35
Observed Loss3
Observed Complex0
Frequencyn/a


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