A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028131



Internal ID19117349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50159790..50256852hg38UCSC Ensembl
Innerchr5:49455624..49552686hg19UCSC Ensembl
Innerchr5:49491381..49588443hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3897063
hg1997063
hg1897063
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5662n100
Supporting Variantsnssv3642088, nssv3642087
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)nsv1028131
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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