A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048277



Internal ID19137496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31125097..31258268hg38UCSC Ensembl
Innerchr12:31278031..31411202hg19UCSC Ensembl
Innerchr12:31169298..31302469hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38133172
hg19133172
hg18133172
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1419n100
Supporting Variantsnssv3504004, nssv3507760, nssv3508871, nssv3512920, nssv3520279, nssv3511991, nssv3507160
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)nsv1048277
Frequency
Sample Size11257
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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