A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047870



Internal ID19137089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:41765152..41860571hg38UCSC Ensembl
Innerchr12:42158954..42254373hg19UCSC Ensembl
Innerchr12:40445221..40540640hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3895420
hg1995420
hg1895420
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1493n100
Supporting Variantsnssv3523505
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)nsv1047870
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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