A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047463



Internal ID19136682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:34317427..34701551hg38UCSC Ensembl
Innerchr12:34470362..34854486hg19UCSC Ensembl
Innerchr12:34361629..34745753hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg38384125
hg19384125
hg18384125
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1447n100
Supporting Variantsnssv3522788, nssv3522787, nssv3522786
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)nsv1047463
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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