A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041975



Internal ID19131194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:41765715..41860571hg38UCSC Ensembl
Innerchr12:42159517..42254373hg19UCSC Ensembl
Innerchr12:40445784..40540640hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3894857
hg1994857
hg1894857
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1493n100
Supporting Variantsnssv3523506
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)nsv1041975
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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