A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046438



Internal ID19135657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:45001..134425hg38UCSC Ensembl
Innerchr12:150430..243591hg19UCSC Ensembl
Innerchr12:20691..113852hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3889425
hg1993162
hg1893162
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1328n100
Supporting Variantsnssv3512963
Samples
Known GenesIQSEC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046438
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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