A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040904



Internal ID18783435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:116562092..116596139hg38UCSC Ensembl
Innerchr12:116999897..117033944hg19UCSC Ensembl
Innerchr12:115484280..115518327hg18UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3834048
hg1934048
hg1834048
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526069
Samples
Known GenesMAP1LC3B2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040904
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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