A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039828



Internal ID19129047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:83227120..83277947hg38UCSC Ensembl
Innerchr12:83620899..83671726hg19UCSC Ensembl
Innerchr12:82145030..82195857hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3850828
hg1950828
hg1850828
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1535n100
Supporting Variantsnssv3524731, nssv3524734, nssv3524729, nssv3524730, nssv3524728, nssv3524735, nssv3524727, nssv3524732, nssv3524733
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)nsv1039828
Frequency
Sample Size11257
Observed Gain1
Observed Loss8
Observed Complex0
Frequencyn/a


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