A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045870



Internal ID19135089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:80025926..80051167hg38UCSC Ensembl
Innerchr12:80419706..80444947hg19UCSC Ensembl
Innerchr12:78943837..78969078hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3825242
hg1925242
hg1825242
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1529n100
Supporting Variantsnssv3524648
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)nsv1045870
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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