A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053547



Internal ID19142766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9477948..9582362hg38UCSC Ensembl
Innerchr12:9630544..9734958hg19UCSC Ensembl
Innerchr12:9521811..9626225hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38104415
hg19104415
hg18104415
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1373n100
Supporting Variantsnssv3509509, nssv3504911, nssv3508186, nssv3515649, nssv3518577, nssv3514418, nssv3517860, nssv3509607, nssv3503222, nssv3515139, nssv3515005, nssv3510098, nssv3511981, nssv3508075, nssv3521521, nssv3514359, nssv3512814, nssv3508331, nssv3518225, nssv3507071, nssv3506500, nssv3513223
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)nsv1053547
Frequency
Sample Size11257
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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