A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3523503



Internal ID18821784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:41643678..41666011hg38UCSC Ensembl
Innerchr12:42037480..42059813hg19UCSC Ensembl
Innerchr12:40323747..40346080hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3822334
hg1922334
hg1822334
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1053183
Supporting Variants
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)nssv3523503
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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