A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039917



Internal ID19129136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:129006365..129027187hg38UCSC Ensembl
Innerchr12:129490910..129511732hg19UCSC Ensembl
Innerchr12:128056863..128077685hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3820823
hg1920823
hg1820823
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1577n100
Supporting Variantsnssv3526187, nssv3712634, nssv3712635, nssv3526185, nssv3526186, nssv3712633
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)nsv1039917
Frequency
Sample Size11257
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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