A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047324



Internal ID19136543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31125097..31256945hg38UCSC Ensembl
Innerchr12:31278031..31409879hg19UCSC Ensembl
Innerchr12:31169298..31301146hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38131849
hg19131849
hg18131849
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1419n100
Supporting Variantsnssv3504764, nssv3504633, nssv3711236, nssv3507350, nssv3521753, nssv3711235, nssv3711234, nssv3516365, nssv3514938, nssv3711233, nssv3512240, nssv3512651, nssv3710494, nssv3513534
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)nsv1047324
Frequency
Sample Size11257
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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