A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051732



Internal ID19140951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:63545960..63757937hg38UCSC Ensembl
Innerchr12:63939740..64151717hg19UCSC Ensembl
Innerchr12:62226007..62437984hg18UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38211978
hg19211978
hg18211978
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1516n100
Supporting Variantsnssv3523781, nssv3523782, nssv3523775, nssv3523778, nssv3523776, nssv3523779, nssv3523780, nssv3523777
Samples
Known GenesDPY19L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051732
Frequency
Sample Size11257
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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