A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049282



Internal ID19138501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31849350..31915236hg38UCSC Ensembl
Innerchr12:32002284..32068170hg19UCSC Ensembl
Innerchr12:31893551..31959437hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3865887
hg1965887
hg1865887
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1426n100
Supporting Variantsnssv3515806
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)nsv1049282
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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